Genetic disorders

Results: 455



#Item
191Cousin marriage / Family / Kinship and descent / Marriage / Genetic testing / Medicine / Biology / Population genetics / Medical genetics / Genetics

Public Comments to the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children

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Source URL: www.hrsa.gov

Language: English - Date: 2014-12-04 01:13:33
192Schwannomatosis / Neurological disorders / Neurosurgery / Malignant rhabdoid tumour / Neurofibromatosis type II / Neurofibromatosis / Atypical teratoid rhabdoid tumor / Merlin / Vestibular schwannoma / Medicine / Health / Oncology

Medical Genomics Laboratory The Medical Genomics Laboratory at UAB is a CLIA– and CAP-certified laboratory working within the Department of Genetics. We provide molecular genetic testing in

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Source URL: www.nfnetwork.org

Language: English - Date: 2012-08-30 12:44:00
193CHD7 / Chromosome 1 / Kallmann syndrome / Syndromes / Health / CHARGE syndrome

Professor Conny van Ravenswaaij-Arts My main research interests are CHARGE syndrome, rare chromosomal disorders and the use of new genome-wide techniques to identify genetic causes for intellectual disability. Content a

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Source URL: chargesyndrome.org

Language: English - Date: 2013-10-03 19:29:24
194Auditory system / National Institute on Deafness and Other Communication Disorders / Balance disorder / Noise-induced hearing loss / National Institutes of Health / TAS2R38 / Audiology / Phenylthiocarbamide / Communication disorder / Medicine / Health / Otology

Summer[removed]Feature Story Bitter is Bigger Than Just a Bad Taste in Your Mouth: How a Tiny Genetic Mutation is Helping Us Map Human Migration Out of Africa By Robin Latham

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Source URL: www.nidcd.nih.gov

Language: English - Date: 2011-05-18 17:40:21
195

U.S. DEPARTMENT OF HEALTH AND HUMAN SERVICES ADVISORY COMMITTEE ON HERITABLE DISORDERS AND GENETIC DISEASES IN NEWBORNS AND CHILDREN Fifth Meeting Thursday, July 21, 2005 Rotunda Room, 8th Floor

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Source URL: www.hrsa.gov

Language: English - Date: 2014-12-04 01:13:41
    196Epidemiology / Newborn screening / Medical tests / Screening / Association of Public Health Laboratories / Health / Medicine / Pediatrics

    Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children Laboratory Standards & Procedures Subcommittee

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    Source URL: www.hrsa.gov

    Language: English - Date: 2014-12-04 01:13:40
    197Rare diseases / Transplantation medicine / Severe combined immunodeficiency / Immunodeficiency / Primary immunodeficiency / Immunology / Hematopoietic stem cell transplantation / Thymus / Graft-versus-host disease / Medicine / Health / Biology

    Public Comments to the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children

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    Source URL: www.hrsa.gov

    Language: English - Date: 2014-12-04 01:13:30
    198Biology / Genetics / Health promotion / Personal life / Genetic testing / Maternal and Child Health Bureau / Genetic disorder / Genetic Alliance / March of Dimes / Medicine / Medical genetics / Health

    Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children September 2007 Health Resources And Services Administration Maternal And Child Health Bureau

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    Source URL: www.hrsa.gov

    Language: English - Date: 2014-12-04 01:12:47
    199Pediatrics / Epidemiology / Newborn screening / Medical tests / Screening / Short-chain acyl-coenzyme A dehydrogenase deficiency / Health / Rare diseases / Medicine

    Public Comment to the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children

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    Source URL: www.hrsa.gov

    Language: English - Date: 2014-12-04 01:13:27
    200Channelopathy / Neurological disorders / Neurodegenerative disorders / Spinocerebellar ataxia / Genodermatoses / Genetic disorders / Ataxia / Dentatorubral-pallidoluysian atrophy / Anticipation / Health / Brain / Genetic genealogy

    Review © American College of Medical Genetics and Genomics Hereditary ataxias: overview Suman Jayadev, MD1 and Thomas D. Bird, MD1–3

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    Source URL: www.nature.com

    Language: English - Date: 2013-09-05 11:06:04
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