Genetic disorders

Results: 455



#Item
111Medical genetics / Medical ethics / Cancer research / Clinical research / Genetic testing / Public health laboratory / Association of Public Health Laboratories / American College of Medical Genetics / ARUP Laboratories / Medicine / Health / Biology

Microsoft Word - National Approach to lab testing of rare disorders_FINAL.d…

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Source URL: www.genomics.health.wa.gov.au

Language: English - Date: 2006-08-01 22:28:16
112Biology / Transthyretin / Tafamidis / Medical genetics / Familial amyloid neuropathy / Amyloidosis / Genetic testing / Polyneuropathy / Amyotrophic lateral sclerosis / Health / Neurological disorders / Medicine

Microsoft Word[removed]TTR-FAP-FinalDAP.docx

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Source URL: www.msac.gov.au

Language: English - Date: 2014-10-28 21:24:17
113Biology / Transthyretin / Tafamidis / Rare diseases / Medical genetics / Amyloidosis / Familial amyloid neuropathy / Polyneuropathy / Genetic testing / Health / Neurological disorders / Medicine

Microsoft Word[removed]TTR-FAP genetic test - Consultation DAP - Ratified.docx

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Source URL: www.msac.gov.au

Language: English - Date: 2014-10-28 21:24:17
114Medical genetics / Pancreas disorders / Pediatrics / Rare diseases / Cystic fibrosis / Sweat test / Congenital absence of the vas deferens / Genetic testing / Evidence-based medicine / Health / Medicine / Biology

DOCX Document

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Source URL: www.msac.gov.au

Language: English - Date: 2014-11-19 23:54:20
115Mind / Mood disorders / Abnormal psychology / Twin study / Bipolar disorder / Nature versus nurture / Twin / Heritability / Mania / Genetics / Biology / Psychiatry

ORIGINAL ARTICLE The Heritability of Bipolar Affective Disorder and the Genetic Relationship to Unipolar Depression Peter McGuffin, MB, PhD, FRCP, FRCPsych; Fruhling Rijsdijk, PhD; Martin Andrew, MB, MRCPsych; Pak Sham,

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Source URL: archpsyc.jamanetwork.com

Language: English
116Neurological disorders / Educational psychology / Dyslexia / Reading / Human behavior / ROBO1 / Human brain / Slit-Robo / Genetic research into dyslexia / Education / Developmental dyslexia / Special education

Dyslexia-linked genetic variant decreases midline crossing of auditory pathways

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Source URL: medicalxpress.com

Language: English - Date: 2015-03-03 23:21:41
117Autism / Syndromes / Fragile X syndrome / Mental retardation / Pediatrics / FMR1 / Premature ovarian failure / Genetic disorder / Ataxia / Health / Medicine / Neurological disorders

Fragile X: Genetics links mental impairment and autism California celebrates second Fragile X Awareness Day on April 18, 2007  By Erica Holloway UNION CITY ---- Jane Jones grew up knowing her sister Margaret Fiedler was

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Source URL: www.efrconline.org

Language: English - Date: 2009-01-21 15:44:42
118Neurological disorders / Rare diseases / Syndromes / Meckel syndrome / Nephrology / Joubert syndrome / TMEM216 / MKS1 / Genetic testing / Health / Ciliopathy / Medicine

Clinical utility gene card for: Meckel syndrome

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Source URL: www.nature.com

Language: English - Date: 2011-06-16 02:14:34
119Medicine / Intersexuality / Pediatrics / Steroids / Cytochrome P450 / Lipoid congenital adrenal hyperplasia / Steroidogenic acute regulatory protein / Glucocorticoid deficiency 1 / Congenital adrenal hyperplasia / Adrenal gland disorders / Biology / Health

Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR) Taninee Sahakitrungruang, Raymond E. Soccio, Mariarosar

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Source URL: discovery.ucl.ac.uk

Language: English - Date: 2010-07-14 10:03:38
120General practice / Sciatica / Spinal disc herniation / Lumbar disc disease / Radicular pain / Health / Magnetic resonance imaging / Biology / Musculoskeletal disorders / Anatomy / Vertebral column

Sciatica. Studies of symptoms, genetic factors, and treatment with periradicular infiltration

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Source URL: herkules.oulu.fi

Language: English - Date: 2001-09-26 07:52:38
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