Examining Uncertainty Around American College of Medical Genetics Recommendations for Newborn Screening for Congenital Adrenal Hyperplasia

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ISBN 13 :
Total Pages : 56 pages
Book Rating : 4.:/5 (962 download)

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Book Synopsis Examining Uncertainty Around American College of Medical Genetics Recommendations for Newborn Screening for Congenital Adrenal Hyperplasia by : Alhanoof Alnafesah

Download or read book Examining Uncertainty Around American College of Medical Genetics Recommendations for Newborn Screening for Congenital Adrenal Hyperplasia written by Alhanoof Alnafesah and published by . This book was released on 2016 with total page 56 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Examining Uncertainty Around American College of Medical Genetics Recommendations for Newborn Screening for Hypermethioninemia

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ISBN 13 :
Total Pages : 82 pages
Book Rating : 4.:/5 (1 download)

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Book Synopsis Examining Uncertainty Around American College of Medical Genetics Recommendations for Newborn Screening for Hypermethioninemia by : Cyrille Ndikumukiza

Download or read book Examining Uncertainty Around American College of Medical Genetics Recommendations for Newborn Screening for Hypermethioninemia written by Cyrille Ndikumukiza and published by . This book was released on 2017 with total page 82 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Examining Uncertainty Around American College of Medical Genetics Recommendations for Newborn Screening for Citrullinemia Type 2

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ISBN 13 :
Total Pages : 84 pages
Book Rating : 4.:/5 (962 download)

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Book Synopsis Examining Uncertainty Around American College of Medical Genetics Recommendations for Newborn Screening for Citrullinemia Type 2 by : Ahmad Alharbi

Download or read book Examining Uncertainty Around American College of Medical Genetics Recommendations for Newborn Screening for Citrullinemia Type 2 written by Ahmad Alharbi and published by . This book was released on 2015 with total page 84 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Examining Uncertainty Around American College of Medical Genetics Recommendations for Newborn Screening for Medium/short-chain L-3-OH Acyl-COA DH Deficiency

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ISBN 13 :
Total Pages : 96 pages
Book Rating : 4.:/5 (974 download)

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Book Synopsis Examining Uncertainty Around American College of Medical Genetics Recommendations for Newborn Screening for Medium/short-chain L-3-OH Acyl-COA DH Deficiency by : Jungyoon Moon

Download or read book Examining Uncertainty Around American College of Medical Genetics Recommendations for Newborn Screening for Medium/short-chain L-3-OH Acyl-COA DH Deficiency written by Jungyoon Moon and published by . This book was released on 2016 with total page 96 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Examining Uncertainty Around the American College of Medical Genetics Recommendation for Newborn Screening for 2-methylbutyryl-CoA Dehydrogenase Deficiency

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ISBN 13 :
Total Pages : 66 pages
Book Rating : 4.:/5 (962 download)

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Book Synopsis Examining Uncertainty Around the American College of Medical Genetics Recommendation for Newborn Screening for 2-methylbutyryl-CoA Dehydrogenase Deficiency by : Razan Algatan

Download or read book Examining Uncertainty Around the American College of Medical Genetics Recommendation for Newborn Screening for 2-methylbutyryl-CoA Dehydrogenase Deficiency written by Razan Algatan and published by . This book was released on 2016 with total page 66 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Examining Uncertainty Around American College of Medical Genetics Recommendations for Newborn Screening for Biotinidase Deficiency (BIOT)

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ISBN 13 :
Total Pages : 82 pages
Book Rating : 4.:/5 (13 download)

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Book Synopsis Examining Uncertainty Around American College of Medical Genetics Recommendations for Newborn Screening for Biotinidase Deficiency (BIOT) by : Rana Kodeih

Download or read book Examining Uncertainty Around American College of Medical Genetics Recommendations for Newborn Screening for Biotinidase Deficiency (BIOT) written by Rana Kodeih and published by . This book was released on 2018 with total page 82 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Examining Uncertainty Around American College of Medical Genetics Recommendations for Newborn Screening for Galactose Epimerase Deficiency

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ISBN 13 :
Total Pages : 98 pages
Book Rating : 4.:/5 (962 download)

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Book Synopsis Examining Uncertainty Around American College of Medical Genetics Recommendations for Newborn Screening for Galactose Epimerase Deficiency by : Bsmah Bajan

Download or read book Examining Uncertainty Around American College of Medical Genetics Recommendations for Newborn Screening for Galactose Epimerase Deficiency written by Bsmah Bajan and published by . This book was released on 2016 with total page 98 pages. Available in PDF, EPUB and Kindle. Book excerpt:

The Analysis of Missing Data and Sampling Variation Around the American College of Medical Genetics (ACGM) Recommendations for Newborn Screening (NBS) of Maple Syrup Urine Disease (MSUD)

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ISBN 13 :
Total Pages : 64 pages
Book Rating : 4.:/5 (13 download)

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Book Synopsis The Analysis of Missing Data and Sampling Variation Around the American College of Medical Genetics (ACGM) Recommendations for Newborn Screening (NBS) of Maple Syrup Urine Disease (MSUD) by : Kelicia A. Daniels

Download or read book The Analysis of Missing Data and Sampling Variation Around the American College of Medical Genetics (ACGM) Recommendations for Newborn Screening (NBS) of Maple Syrup Urine Disease (MSUD) written by Kelicia A. Daniels and published by . This book was released on 2018 with total page 64 pages. Available in PDF, EPUB and Kindle. Book excerpt:

A Critique of the American College of Medical Genetics (ACMG) Methods for Making Newborn Screening Recommendations Using Glutaric Aciduria II as a Case Study and a Systematic Review of Methods and Reporting Qualitites of Cost-effectiveness Analyses in Newborn Screening

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ISBN 13 :
Total Pages : 254 pages
Book Rating : 4.:/5 (11 download)

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Book Synopsis A Critique of the American College of Medical Genetics (ACMG) Methods for Making Newborn Screening Recommendations Using Glutaric Aciduria II as a Case Study and a Systematic Review of Methods and Reporting Qualitites of Cost-effectiveness Analyses in Newborn Screening by : Majed Algarni

Download or read book A Critique of the American College of Medical Genetics (ACMG) Methods for Making Newborn Screening Recommendations Using Glutaric Aciduria II as a Case Study and a Systematic Review of Methods and Reporting Qualitites of Cost-effectiveness Analyses in Newborn Screening written by Majed Algarni and published by . This book was released on 2019 with total page 254 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Assessing Genetic Risks

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Publisher : National Academies Press
ISBN 13 : 0309047986
Total Pages : 353 pages
Book Rating : 4.3/5 (9 download)

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Book Synopsis Assessing Genetic Risks by : Institute of Medicine

Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.

Hereditary Hearing Loss and Its Syndromes

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Publisher : Oxford University Press
ISBN 13 : 0199313881
Total Pages : 749 pages
Book Rating : 4.1/5 (993 download)

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Book Synopsis Hereditary Hearing Loss and Its Syndromes by : Helga V. Toriello

Download or read book Hereditary Hearing Loss and Its Syndromes written by Helga V. Toriello and published by Oxford University Press. This book was released on 2013-06-20 with total page 749 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular diagnosis and on genetic susceptibility to ototoxic factors have been added. As in previous editions, the syndromes are grouped by system (visual, metabolic, cardiologic, neurologic, musculoskeletal, endocrine, etc.), with each chapter written by a recognized expert in the field. Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and for researchers in the hearing sciences.

Genetics and Genomics in Medicine

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Publisher : CRC Press
ISBN 13 : 1000579379
Total Pages : 972 pages
Book Rating : 4.0/5 (5 download)

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Book Synopsis Genetics and Genomics in Medicine by : Tom Strachan

Download or read book Genetics and Genomics in Medicine written by Tom Strachan and published by CRC Press. This book was released on 2022-10-31 with total page 972 pages. Available in PDF, EPUB and Kindle. Book excerpt: The second edition of this textbook written for undergraduate students, graduate students and medical researchers, Genetics and Genomics in Medicine explains the science behind the uses of genetics and genomics in medicine today, and how it is being applied. Maintaining the features that made the first edition so popular, this second edition has been thoroughly updated in line with the latest developments in the field. DNA technologies are explained, with emphasis on the modern techniques that are revolutionizing the use of genetic information in medicine and indicating the role of genetics in common diseases. Epigenetics and non-coding RNA are covered in-depth as are genetic approaches to treatment and prevention, including pharmacogenomics, genetic testing, and personalized medicine. A dedicated chapter charts the latest insights into the molecular basis of cancers, cancer genomics and novel approaches to cancer detection. Coverage of genetic testing at the level of genes, chromosomes and genomes has been significantly expanded and updated. Extra prominence has been given to additional genomic analyses, ethical aspects, and novel therapeutic approaches. Various case studies illustrate selected clinical applications. Key Features Comprehensive and integrated account of how genetics and genomics affect the entire spectrum of human health and disease Exquisite artwork illuminates the key concepts and mechanisms Summary points at the end of each chapter help to consolidate learning For each chapter, an abundance of further reading to help provide the reader with direction for further study Inclusive online question bank to test understanding Standard boxes summarizing certain key principles in genetics Clinical boxes summarizing selected case studies, pathogenesis mechanisms or novel therapies for selected diseases This book is equally suited for newcomers to the field as well as for engineers and scientists that have basic knowledge in this field but are interested in obtaining more information about specific future applications..

Developmental Endocrinology

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Publisher : Springer Science & Business Media
ISBN 13 : 1592591566
Total Pages : 721 pages
Book Rating : 4.5/5 (925 download)

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Book Synopsis Developmental Endocrinology by : Erica A. Eugster

Download or read book Developmental Endocrinology written by Erica A. Eugster and published by Springer Science & Business Media. This book was released on 2002-03-04 with total page 721 pages. Available in PDF, EPUB and Kindle. Book excerpt: Leading researchers comprehensively translate all the latest scientific information regarding endocrine physiology and development into an understanding of the clinical pathogenesis, diagnosis, and treatment of endocrine disease. Organized by endocrine system, each section of the book concisely describes the chronological development of the human organism, from the fetal/prenatal period through childhood, adolescence, and in some cases, into adulthood. The prenatal sections review recent discoveries concerning transcription factors, homeobox genes, and human molecular mutations-the basic processes governing prenatal development of the individual endocrine organs-and detail the pathophysiology, clinical characteristics, and treatment of pediatric endocrine disorders.

American Academy of Pediatrics Textbook of Pediatric Care

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ISBN 13 : 9781581109665
Total Pages : 0 pages
Book Rating : 4.1/5 (96 download)

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Book Synopsis American Academy of Pediatrics Textbook of Pediatric Care by : Jane Meschan Foy

Download or read book American Academy of Pediatrics Textbook of Pediatric Care written by Jane Meschan Foy and published by . This book was released on 2016-03-31 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive manual of pediatric medicine - completely updated with 75 new chapters and e-book access.

Inborn Metabolic Diseases

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Publisher : Springer Science & Business Media
ISBN 13 : 3662031477
Total Pages : 421 pages
Book Rating : 4.6/5 (62 download)

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Book Synopsis Inborn Metabolic Diseases by : K. Tada

Download or read book Inborn Metabolic Diseases written by K. Tada and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.

"I Want to Be Like Nature Made Me"

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ISBN 13 : 9781623135027
Total Pages : 179 pages
Book Rating : 4.1/5 (35 download)

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Book Synopsis "I Want to Be Like Nature Made Me" by : InterACT

Download or read book "I Want to Be Like Nature Made Me" written by InterACT and published by . This book was released on 2017 with total page 179 pages. Available in PDF, EPUB and Kindle. Book excerpt: "This report examines the physical and psychological damage caused by medically unnecessary surgery on intersex people, who are born with chromosomes, gonads, sex organs, or genitalia that differ from those seen as socially typical for boys and girls. The report examines the controversy over the operations inside the medical community, and the pressure on parents to opt for surgery"--Publisher's description.

Physical Assessment of the Newborn

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Publisher : Springer Publishing Company
ISBN 13 : 0826121934
Total Pages : 392 pages
Book Rating : 4.8/5 (261 download)

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Book Synopsis Physical Assessment of the Newborn by : Ellen P. Tappero, DNP, RN, NNP-BC

Download or read book Physical Assessment of the Newborn written by Ellen P. Tappero, DNP, RN, NNP-BC and published by Springer Publishing Company. This book was released on 2014-09-01 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: Physical Assessment of the Newborn, 5th Edition, is a comprehensive text with a wealth of detailed information on the assessment of the newborn. This valuable and essential resource illustrates the principles and skills needed to gather assessment data systematically and accurately, and also provides a knowledge base for interpretation of this data. Coverage addresses: gestational assessment, neurologic assessment, neonatal history, assessment of the dysmorphic infant, and systemic evaluation of individual body systems, as well as key information on behavioral and pain assessment, including the use of specific tools with various groups ranging from term to extremely preterm infants. Numerous tables, figures, illustrations, and photos, many of them in full color, are a major strength that enhances the book’s usefulness as a clinical resource. The text is an excellent teaching tool and resource for anyone who performs newborn examinations including nurses, neonatal and pediatric nurse practitioners, nurse-midwives, physicians and therapists. It can also serve as a core text for any program preparing individuals for advanced practice roles in neonatal care. KEY FEATURES: An authoritative and renowned text that comprehensively addresses all key aspects of newborn assessment Provides a well-ordered evaluation of individual body systems. Assists the practitioner in identifying infant state, behavioral clues, and signs of pain, facilitating individualized care. Comprehensively addresses the tremendous range of variation among newborns of different gestational ages. The content is amplified by numerous photos and illustrations, many in full color Includes Power Point slides and an Image Bank