Genetics of Sirenomelia, the Mermaid Syndrome

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Publisher :
ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.:/5 (139 download)

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Book Synopsis Genetics of Sirenomelia, the Mermaid Syndrome by : Rita P. Verma

Download or read book Genetics of Sirenomelia, the Mermaid Syndrome written by Rita P. Verma and published by . This book was released on 2020 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Sirenomelia (SML) is a rare, almost universally fatal congenital malformation presenting pathognomically with fused lower extremities and absent or malformed perineum. The classic Sirenomelia sequence includes a uniform spectrum of caudal malformations, spinal defects, and a single umbilical artery. SML is postulated to be due to a genetic predisposition, unmasked by biochemical or environmental triggers. Primary developmental defects in the formation of caudal mesoderm or embryonic caudal vessels with resultant local tissue hypoperfusion are proposed hypotheses for its pathogenesis. SML occurs sporadically in humans, presumably due to a spontaneous mutation, and is speculated to have an autosomal dominant inheritance pattern. In mutant mice, specific defects in Cyp26a1 and Bmp 7 genes are demonstrated to produce offsprings with SML. Bmp 7 is a signaling protein, which belongs to the transforming growth factor-β (TGF β) superfamily. Tsg 1, a Bmp and chordin-binding protein, functions as an activator-inhibitor of Bmp signaling in the embryonic caudal region (ECR). Loss of Bmp7 genes combined with a complete loss or half-dose of Tsg 1 is demonstrated to produce an invariable SML phenotype. SML is also demonstrated to occur with increased Retinoic acid (RA) signaling in the ECR. The Cyp26a1 gene is involved in coding for an enzyme, which expresses in ECR and degrades RA. A specific defect in this gene leads to excess local RA concentration and SML generation with a reported 20% penetrance in mutant mice. However, the mutational screening of Cyp26a1 and Bmp 7genes has failed to confirm their involvement in mankind and the molecular defect and genetic inheritability of SML in humans remain undefined.

Congenital Anomalies in Newborn Infants

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Publisher : BoD – Books on Demand
ISBN 13 : 1839629886
Total Pages : 228 pages
Book Rating : 4.8/5 (396 download)

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Book Synopsis Congenital Anomalies in Newborn Infants by : Rita P. Verma

Download or read book Congenital Anomalies in Newborn Infants written by Rita P. Verma and published by BoD – Books on Demand. This book was released on 2021-09-15 with total page 228 pages. Available in PDF, EPUB and Kindle. Book excerpt: Congenital anomalies constitute a large group of diverse biochemical, histological, and anatomical defects presenting at birth and caused by a myriad of inherently unrelated etiopathogenic factors. A significant number of cases are idiopathic. With striking variability in clinical manifestation, the outcomes range from inconsequential to lethal, with immense medical, social, emotional, and financial implications. The principles of management vary from medical, surgical, none, or both, and the surgical procedures can be lifesaving or merely cosmetic. This book discusses the epidemiology, etiopathogenesis, recurrence risk, and specific clinical and investigational evaluation of congenital malformations. In addition, the book reviews the embryology, anatomy, pathophysiology, and updated management concepts of some of the most complex and intriguing anomalies of the major organ systems.

Fetal and Perinatal Skeletal Dysplasias

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Publisher : CRC Press
ISBN 13 : 131534629X
Total Pages : 840 pages
Book Rating : 4.3/5 (153 download)

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Book Synopsis Fetal and Perinatal Skeletal Dysplasias by : Christine M Hall

Download or read book Fetal and Perinatal Skeletal Dysplasias written by Christine M Hall and published by CRC Press. This book was released on 2012-09-30 with total page 840 pages. Available in PDF, EPUB and Kindle. Book excerpt: Skeletal dysplasias are rare, they may be genetic, sporadic or environmentally determined conditions, affecting bone and cartilage growth and development. The genetic mutations continue to exert their influence throughout the life of the affected individual. This unique, full colour atlas features 132 conditions with 2300 images of over 500 patients. It brings together the wide-ranging clinical disciplines involved in pre and postnatal care and diagnosis and presents perinatal images of rare skeletal disorders to include skeletal dysplasias and malformation syndromes on a case-by-case basis. It presents the most up-to-date information on the individual conditions to include the mode of inheritance (autosomal dominant or recessive, or non-genetic), the Mendelian Inheritance in Man number (MIM) for further reference reading, the locus (the chromosome number and position on the affected chromosome), the mutated gene and the affected protein. Each condition has a brief summary including synonyms, incidence, genetics, age at presentation, clinical, prenatal ultrasound and postnatal radiological features, bone histology, prognosis and differential diagnosis. Images are presented with each case illustrating different imaging modalities and with gross and/or histopathology findings. Brief clinical findings are also given where available. It is of great value to all clinicians and technicians working in fetal medicine and neonatal care. It greatly assists in diagnostic accuracy and provides clinicians and affected families with the information needed to make informed management decisions.

The Merman

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Publisher : Simon and Schuster
ISBN 13 : 1605989134
Total Pages : 175 pages
Book Rating : 4.6/5 (59 download)

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Book Synopsis The Merman by : Carl-Johan Vallgren

Download or read book The Merman written by Carl-Johan Vallgren and published by Simon and Schuster. This book was released on 2015-12-15 with total page 175 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nella and her brother Robert live a difficult life with their mother and father in a small town on the west coast of Sweden. Robert is bullied at school, and Nella has to resort to debt and petty crime to pay off his tormentors. When she turns to her friend Tommy for help, her suspicions are aroused by the mysterious comings and goings of his brothers at their dilapidated boat house. But when she uncovers the reason behind their enigmatic behavior, her life is opened to the realities of a mindboggling secret. The Merman is a dark and haunting novel about sibling love and betrayal—and about what happens when the mundane collides with the strange and beautiful.

Abnormal Skeletal Phenotypes

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Publisher : Springer Science & Business Media
ISBN 13 : 3540303618
Total Pages : 970 pages
Book Rating : 4.5/5 (43 download)

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Book Synopsis Abnormal Skeletal Phenotypes by : Alessandro Castriota-Scanderbeg

Download or read book Abnormal Skeletal Phenotypes written by Alessandro Castriota-Scanderbeg and published by Springer Science & Business Media. This book was released on 2006-03-20 with total page 970 pages. Available in PDF, EPUB and Kindle. Book excerpt: Taking a symptom-oriented approach, this book focuses on the radiographic changes of malformation syndromes and skeletal dysplasias. Its clear structure makes it an essential, practical guide for radiologists, geneticists, and pediatricians.

Our Dolphin Ancestors

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Publisher : Simon and Schuster
ISBN 13 : 1591432324
Total Pages : 406 pages
Book Rating : 4.5/5 (914 download)

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Book Synopsis Our Dolphin Ancestors by : Frank Joseph

Download or read book Our Dolphin Ancestors written by Frank Joseph and published by Simon and Schuster. This book was released on 2016-03-17 with total page 406 pages. Available in PDF, EPUB and Kindle. Book excerpt: Reveals the shared ancestry behind our affinity with dolphins and our shared destiny • Explains how we are both descendants of the aquatic ape and still share many physiological features with dolphins that set us apart from other primates • Explores dolphins’ communication with other species and how dolphin therapy has miraculous effects on people with autism, cancer, stroke, and depression • Explores the connections between dolphins and Atlantis and Lemuria Wild animals avoid contact with humans, but wild dolphins seek us out to play and socialize, even going so far as to voluntarily rescue people from drowning. What explains this remarkable natural affinity? Revealing the evolutionary basis for our special relationship with dolphins, Frank Joseph explains how we are both descendants of the same ancient branch of human-ity. Building upon the aquatic ape theory, he details how we both began on land but devastating floods forced our distant ancestors into the seas, where humanity developed many of the traits that set us apart from other primates, such as our instinctive diving reflex and our newborns’ ability to swim. But while some of the aquatic apes returned to land, later evolving into modern humans, some remained in the cradle of Mother Ocean and became our dolphin cousins. Integrating scientific research on dolphin intelligence, communication, and physiology with enduring myths from some of the world’s oldest cultures, such as the Aborigines, Norse, Greeks, and Celts, the author examines our physical commonalities with dolphins, including their vestigial thumbs and legs, birth processes, and body temperature. He explores dolphins’ uncanny ability to diagnose disease such as cancer in humans and how dolphin therapy has had miraculous effects on children with autism, victims of stroke, and those suffering from depression. He provides evidence for dolphins’ different attitudes toward men, women, and children, their natural affinity with cats and dogs, and their telepathic communication with other species, including ours. He explores dolphins’ mysterious role in the birth of early civilization and their connections with the Dog Star, Sirius, and Atlantis and Lemuria--a bond still commemorated by annual gatherings of millions of dolphins. As Frank Joseph shows, if we can learn to fully communicate with dolphins, accessing their millennia-old oral tradition, we may learn the truth about humanity’s origins and our shared future, when humankind may yet again quit the land for a final return to the sea.

Callen's Ultrasonography in Obstetrics and Gynecology E-Book

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Publisher : Elsevier Health Sciences
ISBN 13 : 0323392784
Total Pages : 1344 pages
Book Rating : 4.3/5 (233 download)

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Book Synopsis Callen's Ultrasonography in Obstetrics and Gynecology E-Book by : Mary E Norton

Download or read book Callen's Ultrasonography in Obstetrics and Gynecology E-Book written by Mary E Norton and published by Elsevier Health Sciences. This book was released on 2016-07-02 with total page 1344 pages. Available in PDF, EPUB and Kindle. Book excerpt: Get outstanding guidance from the world's most trusted reference on OB/GYN ultrasound. Now brought to you by lead editor Dr. Mary Norton, Callen’s Ultrasonography in Obstetrics and Gynecology has been completely and exhaustively updated by a team of obstetric, gynecologic, and radiology experts to reflect the most recent advances in the field. It addresses the shift in today's practice to a collaborative effort among radiologists, perinatologists, and OB/GYNs, with new emphasis placed on genetics and clinical management. This must-have resource covers virtually all aspects of fetal, obstetric and gynecologic ultrasound — from the common to the rare — in one essential clinical reference, allowing you to practice with absolute confidence. Highly templated, full-color format allows you to locate information more quickly. Full-color medical illustrations present key anatomic details in a clear manner. Thousands of digital-quality images depict the complete range of normal and abnormal imaging presentations. Provides extensive updates of text and images, including the latest in imaging, Doppler techniques, genetic testing, and clinical management. Brand new chapters provide up-to-date, comprehensive coverage of topics relevant to current practice: -First Trimester Fetal Anatomy -Obstetric Ultrasound and the Obese Patient -Evaluation of Pelvic Pain in the Reproductive Age Patient -Gynecologic Ultrasound in the Pediatric and Adolescent Patient -Ultrasound and Magnetic Resonance Imaging in Urogynecology -The Role of Ultrasound in Gynecologic Interventions Highlights significant new genetic testing content, including correlation with ultrasound evaluation of the fetus. Places increased emphasis on 3-dimensional imaging and correlative imaging with magnetic resonance (MR). Features new practice guidelines for obstetric evaluation (including first trimester assessment) and gynecologic management (including evaluation of the endometrium and of ovarian masses). Features new information about fetal imaging guidelines from the National Institute of Child Health and Human Development (NICHD). Provides expanded discussion of fetal, obstetric, and gynecologic interventions with new emphasis on clinical use and application of ultrasound imaging. Includes key and comprehensive reference data used for evaluation of fetal growth and other specialized measurements.

Mutants

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Publisher : Penguin
ISBN 13 : 0142004820
Total Pages : 449 pages
Book Rating : 4.1/5 (42 download)

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Book Synopsis Mutants by : Armand Marie Leroi

Download or read book Mutants written by Armand Marie Leroi and published by Penguin. This book was released on 2005-01-25 with total page 449 pages. Available in PDF, EPUB and Kindle. Book excerpt: Visit Armand Marie Leroi on the web: http://armandleroi.com/index.html Stepping effortlessly from myth to cutting-edge science, Mutants gives a brilliant narrative account of our genetic code and the captivating people whose bodies have revealed it—a French convent girl who found herself changing sex at puberty; children who, echoing Homer’s Cyclops, are born with a single eye in the middle of their foreheads; a village of long-lived Croatian dwarves; one family, whose bodies were entirely covered with hair, was kept at the Burmese royal court for four generations and gave Darwin one of his keenest insights into heredity. This elegant, humane, and engaging book “captures what we know of the development of what makes us human” (Nature).

Neural Tube Defects

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Publisher : World Scientific
ISBN 13 : 9814467731
Total Pages : 293 pages
Book Rating : 4.8/5 (144 download)

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Book Synopsis Neural Tube Defects by : Jorge A Lazareff

Download or read book Neural Tube Defects written by Jorge A Lazareff and published by World Scientific. This book was released on 2010-10-25 with total page 293 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neural Tube Defects are a group of related but individual pathologies that are the most common congenital anomalies of the Central Nervous System.The importance of this condition has generated a large body of literature that seldom was written for the clinician in a comprehensive and didactic manner.In this book, each chapter is richly illustrated and dedicated to one disease with subheadings that encompass etiology, molecular biology, clinical anatomy, symptoms, rationale for surgical procedures, natural history and transition into adulthood. This systematic content scheme allows the treating physician to easily access information that will help him/her understand the patient's condition and decide the best treatment alternatives.

Congenital Anomalies

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Publisher : BoD – Books on Demand
ISBN 13 : 1789231140
Total Pages : 546 pages
Book Rating : 4.7/5 (892 download)

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Book Synopsis Congenital Anomalies by : Stefania Tudorache

Download or read book Congenital Anomalies written by Stefania Tudorache and published by BoD – Books on Demand. This book was released on 2018-05-02 with total page 546 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nowadays, nobody can imagine practicing obstetrics without using obstetrical ultrasound. Working in the prenatal diagnosis field requires dedication, patience, skills, experience, caution, and empathy. The concept of this book was guided by the desire to provide some help to the ultrasound operators. On a daily basis, they are confronted with the challenging task of ruling out or suspecting/confirming the diagnosis of fetal anomalies, either structural or chromosomal. The chapters of this book contain objective and exhaustive updated reviews of the pertinent literature, so that the reader would have a wide reference basis on each subject. Yet, many authors scan the fetus themselves or are directly involved with managing pregnancies with structural malformations or chromosomal anomalies. They kindly shared their personal experience and lessons learned over the years. This book is beneficial for all the professionals working in the prenatal diagnosis.

Genetic & Malformation Syndromes in Clinical Medicine

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Publisher :
ISBN 13 :
Total Pages : 532 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Genetic & Malformation Syndromes in Clinical Medicine by : William L. Nyhan

Download or read book Genetic & Malformation Syndromes in Clinical Medicine written by William L. Nyhan and published by . This book was released on 1976 with total page 532 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Disorders|Differences of Sex Development

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Publisher : Springer Nature
ISBN 13 : 9811378649
Total Pages : 359 pages
Book Rating : 4.8/5 (113 download)

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Book Synopsis Disorders|Differences of Sex Development by : John M. Hutson

Download or read book Disorders|Differences of Sex Development written by John M. Hutson and published by Springer Nature. This book was released on 2020-06-10 with total page 359 pages. Available in PDF, EPUB and Kindle. Book excerpt: The new, fully updated edition of this successful book, brings together the combined experience of a leading dedicated unit over 25 years in delivering expert medical and surgical care to children with DSD (Disorders|Differences of Sex Development) in a holistic environment. It documents the most recent advances in the molecular biology and embryology of sex development, and describes each variation in detail. The main focus of the book is on patients with variations with their anatomy and hormone function. New chapters describe the developments in the field in terms of definitions and incidence, the mental health of DSD patients and discuss the perspectives of patients families and support groups. The clinical presentation and approach to diagnosis are described both for babies and for children presenting later in childhood or at adolescence. The chapters on management highlight all the latest knowledge and include the shared wisdom of the authors on current controversies, such as the timing of surgical treatment. Finally, the authors describe their short-, medium-, and long-term outcomes, which demonstrate the strengths of holistic team management.

Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood

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Publisher : Lippincott Williams & Wilkins
ISBN 13 : 1496310047
Total Pages : 2156 pages
Book Rating : 4.4/5 (963 download)

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Book Synopsis Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood by : Victor C. Baum

Download or read book Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood written by Victor C. Baum and published by Lippincott Williams & Wilkins. This book was released on 2014-12-01 with total page 2156 pages. Available in PDF, EPUB and Kindle. Book excerpt: This text presents the anesthetic implications of genetic, metabolic, and dysmorphic pediatric disorders in a uniform format that moves through common and uncommon manifestations in the major anatomic areas and concludes with implications for the anesthetists faced with such a case. This unique format is useful for quick look-up of information that is otherwise esoteric and difficult to find. The new edition will be completely updated and will be presented in full color for the first time, allowing for the addition of many color photographs.

Ultrasound of Fetal Syndromes

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Publisher : Elsevier Health Sciences
ISBN 13 : 0443066418
Total Pages : 673 pages
Book Rating : 4.4/5 (43 download)

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Book Synopsis Ultrasound of Fetal Syndromes by : Beryl R. Benacerraf

Download or read book Ultrasound of Fetal Syndromes written by Beryl R. Benacerraf and published by Elsevier Health Sciences. This book was released on 2008-01-01 with total page 673 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the only book of its kind in prenatal diagnosis that details the most common sonographically detectable fetal syndromes. It has an easy-to-follow approach of using lists and patterns of malformations to generate a differential diagnosis of the possible syndrome involved. The reader is then led to the more detailed description of each syndrome to determine the exact final diagnosis. The new edition incorporates 3D ultrasound throughout the book, as well as 20 syndromes not previously covered. Cross-references sonographic fetal malformations with various syndromes to use patterns of malformation to arrive at the correct diagnosis. Shows the specific features of each syndrome to help you determine how detectable the syndrome is or how likely the fetus is to have the syndrome. Offers up-to-date information on how to manage borderline sonographic findings. Helps you to not only identify what syndrome a given set of malformations is likely to represent, but also understand the clinical implications of that syndrome. Includes more than 500 new images, many of which are 3D ultrasound images. Covers 20 new syndromes, including Perlman Syndrome, Cerebro-Costo-Mandibular Syndrome, Van der Woude Syndrome, Septo-Optic Dysplasia, Saethre-Chotzen Syndrome, Congenital Adrenal Hyperplasia, Congenital High Airway Obstruction Syndrome (CHAOS), Cloacal Extrophy Sequence, Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Opitz Syndrome, and DiGeorge Syndrome. Takes full advantage of a new full color design to make reference even easier. Presents ultrasound video ciips as they would appear in practice on the bonus DVD.

The Violinist's Thumb

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Publisher : Little, Brown
ISBN 13 : 0316202975
Total Pages : 416 pages
Book Rating : 4.3/5 (162 download)

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Book Synopsis The Violinist's Thumb by : Sam Kean

Download or read book The Violinist's Thumb written by Sam Kean and published by Little, Brown. This book was released on 2012-07-17 with total page 416 pages. Available in PDF, EPUB and Kindle. Book excerpt: From New York Times bestselling author Sam Kean comes incredible stories of science, history, language, and music, as told by our own DNA. In The Disappearing Spoon, bestselling author Sam Kean unlocked the mysteries of the periodic table. In THE VIOLINIST'S THUMB, he explores the wonders of the magical building block of life: DNA. There are genes to explain crazy cat ladies, why other people have no fingerprints, and why some people survive nuclear bombs. Genes illuminate everything from JFK's bronze skin (it wasn't a tan) to Einstein's genius. They prove that Neanderthals and humans bred thousands of years more recently than any of us would feel comfortable thinking. They can even allow some people, because of the exceptional flexibility of their thumbs and fingers, to become truly singular violinists. Kean's vibrant storytelling once again makes science entertaining, explaining human history and whimsy while showing how DNA will influence our species' future.

Atlas & Synopsis of Neonatology

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Publisher : Jaypee Brothers Medical Publishers
ISBN 13 : 9352709845
Total Pages : 374 pages
Book Rating : 4.3/5 (527 download)

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Book Synopsis Atlas & Synopsis of Neonatology by : Rhishikesh Thakre

Download or read book Atlas & Synopsis of Neonatology written by Rhishikesh Thakre and published by Jaypee Brothers Medical Publishers. This book was released on 2019-06-30 with total page 374 pages. Available in PDF, EPUB and Kindle. Book excerpt: The second edition of this text and atlas provides clinicians and trainees with the latest advances in the diagnosis and management of neonatal disorders. Divided into eight sections and more than 300 topics, the book covers the normal newborn; clinical phenomena; skin disorders; infections; systemic disorders; associations, malformations, and genetic disorders; latrogenic disorders; and miscellaneous topics. Each topic includes a clinical photograph accompanied by a description covering aetiopathogenesis, clinical features, investigations, differential diagnosis, treatment, and prognosis. The new edition has been fully revised and updated and features nearly 600 clinical images of both common and uncommon neonatal conditions. Key points Comprehensive text and atlas on diagnosis and management of neonatal disorders Fully revised, second edition covering more than 300 topics Features nearly 600 clinical images of common and uncommon conditions Previous edition (9789385891717) published in 2016

The Genetics of Hand Malformations

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Author :
Publisher : Alan R. Liss
ISBN 13 :
Total Pages : 596 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis The Genetics of Hand Malformations by : Samia A. Temtamy

Download or read book The Genetics of Hand Malformations written by Samia A. Temtamy and published by Alan R. Liss. This book was released on 1978 with total page 596 pages. Available in PDF, EPUB and Kindle. Book excerpt: