Medical genetics

Results: 3808



#Item
941Mental retardation / Autism / Syndromes / Fragile X syndrome / Pediatrics / FMR1 / Chromosomal fragile site / Sherman paradox / Medical genetics / Genetics / Medicine / Health

SPECIAL FEATURE SECTION EDITOR: WALTER W. TUNNESSEN, JR, MD Picture of the Month Karen D. Tsuchiya, MD; Miriam Forsythe, MS; Nathaniel H. Robin, MD; Walter W. Tunnessen, Jr, MD

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Source URL: archpedi.jamanetwork.com

Language: English
942Emerging technologies / Medical genetics / Medical research / Autophagy / Transfection / Cytochrome P450 reductase / Gene therapy / Genetically modified mouse / Biology / Gene delivery / Molecular biology

Research Article TRANSPARENT PROCESS TFEB hepatic gene transfer for AAT deficiency

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Source URL: embomolmed.embopress.org

Language: English - Date: 2015-02-10 05:34:31
943Genomics / Medical genetics / Emerging technologies / Biotechnology / Genetic testing / Personalized medicine / Full genome sequencing / ARUP Laboratories / Life Technologies / Medicine / Biology / Genetics

TriMark Publications November 2013 Volume: TMRMDGT13[removed]MOLECULAR DIAGNOSTICS

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Source URL: www.trimarkpublications.com

Language: English - Date: 2014-07-14 05:46:43
944Syndromes / Medical genetics / Rare diseases / Molecular biology / Exome sequencing / Aniridia / DiGeorge syndrome / Retinitis pigmentosa / Glycogen storage disease type V / Health / Biology / Genetics

Sample Submission Form Testing Services for Rare Mendelian Disorders where Rare is Common

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Source URL: www.genedx.com

Language: English - Date: 2014-12-23 10:37:57
945Medical genetics / Applied genetics / DNA / Rare diseases / Genetic testing / Prenatal diagnosis / DNA profiling / Maple syrup urine disease / Genetic counseling / Medicine / Biology / Genetics

GeneDx. Informed Consent for DNA Testing 207 Perry Parkway Gaithersburg, MD 20877

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Source URL: www.genedx.com

Language: English - Date: 2012-12-22 10:21:20
946Rare diseases / Maple syrup urine disease / Dihydrolipoamide dehydrogenase / BCKDHB / Chromosome 1 / Genetics / Medical genetics / Cytochrome P450 reductase / Mutation / Medicine / Health / Biology

Microsoft Word - Info_sheet=MSUD_2013.doc

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Source URL: www.genedx.com

Language: English - Date: 2013-05-22 19:03:26
947Medical genetics / Applied genetics / Medical ethics / Genetic testing / DNA / Genetic counseling / Genetic linkage / DNA profiling / Predictive medicine / Genetics / Medicine / Biology

MML Informed Consent for Genetic Testing - MC1235-117

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Source URL: www.mayomedicallaboratories.com

Language: English - Date: 2012-12-11 15:36:50
948Genetics / Medical ethics / Medical tests / Genetic testing / Applied genetics / Prenatal diagnosis / Genetic predisposition / DNA profiling / Genetic discrimination / Medicine / Biology / Medical genetics

Microsoft Word[removed]en.doc

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Source URL: www.admin.ch

Language: English - Date: 2014-11-24 04:31:02
949In vitro fertilisation / Eugenics / Human reproduction / Preimplantation genetic diagnosis / United Kingdom Accreditation Service / Genetic testing / Pathology / Clinical pathology / Medical laboratory / Medicine / Medical genetics / Fertility medicine

EQA Schedule of Accreditation issued by Clinical Pathology Accreditation (UK) Ltd[removed]High Street, Feltham, Middlesex, TW13 4UN EQA Reference No: 051

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Source URL: www.ukas.com

Language: English - Date: 2014-01-14 08:50:29
950Newborn screening / Pediatrics / Association of Public Health Laboratories / Medical genetics / Medicine / Health / Epidemiology

Discretionary Advisory Committee on Heritable Disorders in Newborns and Children February 2015 Meeting

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Source URL: www.hrsa.gov

Language: English - Date: 2015-01-16 13:02:12
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