Genetic disorders

Results: 455



#Item
341Schwannomatosis / Neurofibromatosis / Neurofibroma / Proteins / Merlin / Neurological disorders / Neurofibromin 1 / Vestibular schwannoma / Schwannoma / Medicine / Biology / Oncology

NEUROFIBROMATOSIS RESEARCH PROGRAM N eurofibromatosis 1 (NF1) and NF2 are distinct genetic disorders of the nervous system. These disorders usually result in tumors involving nerves anywhere in the body; however, nonne

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Source URL: cdmrp.army.mil

Language: English - Date: 2006-02-13 14:15:19
342Pediatrics / Endocrinology / Intersexuality / Congenital adrenal hyperplasia / Lipoid congenital adrenal hyperplasia / Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency / Adrenal gland disorders / Health / Medicine

Genetic Fact Sheets for Parents Other Disorders Screening, Technology, and Research in Genetics is a multi-state project to improve information about the financial, ethical, legal, and social issues surrounding expanded

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Source URL: www.newbornscreening.info

Language: English - Date: 2012-12-12 19:33:41
343Pediatrics / Rare diseases / Medical genetics / Pancreas disorders / Cystic fibrosis / Newborn screening / Genetic testing / Cystic Fibrosis Foundation / Cf / Health / Medicine / Biology

Cystic Fibrosis Newborn Screening (CF NBS)

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Source URL: azdhs.gov

Language: English - Date: 2012-04-12 12:46:04
344Rare diseases / Genetics / Genodermatoses / Plant sexuality / Sex linkage / Syndromes / Recessive / Genetic disorder / Donohue syndrome / Health / Medicine / Biology

Inheritance Patterns for Joubert Syndrome & Related Disorders We all carry the same genes, including all of the genes known for JSRD, and variations within our genes are what make us unique. Someone who has been diagnose

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Source URL: www.jsrdf.org

Language: English - Date: 2013-06-04 20:05:07
345Hematopathology / Sickle-cell disease / Sickle cell trait / Epidemiology / Hemoglobinopathy / Newborn screening / Genetic disorder / Hemoglobin / Thalassemia / Health / Medicine / Genetics

DEPARTMENT OF HEALTH AND HUMAN SERVICES Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children 5600 Fishers Lane, Room 18A19 Rockville, Maryland 20857

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Source URL: www.hrsa.gov

Language: English - Date: 2012-01-07 00:53:30
346Epidemiology / Newborn screening / Pediatrics / Prevention / Medical specialties / Screening / Glycogen storage disease type II / Autism / March of Dimes / Medicine / Health / Rare diseases

Evidence-based Evaluation and Decision Process for the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborn and Children: A Meeting Summary

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Source URL: www.hrsa.gov

Language: English - Date: 2012-01-07 00:53:48
347Autism / Pervasive developmental disorders / Neurological disorders / Special education / Abnormal psychology / Autism spectrum / Heritability of autism / Peter Szatmari / Asperger syndrome / Psychiatry / Health / Medicine

A Genetic Study of Autism/PDD; Molecular and Family Studies Dr. Peter Szatmari Autism and the related pervasive developmental disorders (PDD) represent one of the most disabling conditions of childhood in terms of preval

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Source URL: www.tcag.ca

Language: English - Date: 2009-04-15 08:59:12
348Autism / Pervasive developmental disorders / Neurological disorders / Developmental neuroscience / Developmental psychology / Asperger syndrome / Full genome sequencing / PDD-NOS / Developmental disorder / Psychiatry / Medicine / Health

Genetic Analysis of Autism Spectrum and Associated Neurodevelopmental Disorders What is the purpose of the research? Our genomics study will identify and characterize genes that confer risk to autism spectrum and related

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Source URL: www.tcag.ca

Language: English - Date: 2014-04-10 15:36:08
349Medical emergencies / Sads / Brugada syndrome / Arrhythmogenic right ventricular dysplasia / Health / Cardiac dysrhythmia / Medicine

Dear Physician, Do you see patients who have Long QT, Brugada Syndrome, ARVD, WPW or other genetic heart rhythm disorders?  If so, you know that these families require a lot of support and have many questions.  I am h

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Source URL: www.sads.org

Language: English - Date: 2011-03-18 19:27:48
350Genetic genealogy / Fatty-acid metabolism disorder / Newborn screening / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Carnitine-acylcarnitine translocase deficiency / Propionic acidemia / Malonyl-CoA decarboxylase deficiency / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Very long-chain acyl-coenzyme A dehydrogenase deficiency / Health / Rare diseases / Medicine

Newborn Screening Program Disorders

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Source URL: health.utah.gov

Language: English - Date: 2013-07-08 12:47:26
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