Genodermatoses

Results: 645



#Item
111Cytogenetics / Chromosomal abnormalities / Genodermatoses / Turner syndrome / Monosomy / X chromosome / Growth hormone treatment / Aneuploidy / Noonan syndrome / Genetics / Health / Syndromes

Why am I so short? A common reason for referral to the genetic counselling service is short stature. Patients often ask why they are short and if there is any treatment. To answer these questions, it is necessary to star

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Source URL: www.dh.gov.hk

Language: English - Date: 2013-04-08 23:51:23
112Genodermatoses / Pervasive developmental disorders / Autism / Developmental disability / Angelman syndrome / Prader–Willi syndrome / Fragile X syndrome / Disability / Health / Neurological disorders / Syndromes

Developmental Behavioural Paediatrician[removed]years) Developmental

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Source URL: www.cobaw.org.au

Language: English - Date: 2014-01-23 22:53:02
113Syndromes / Lifesaving / Health / Genodermatoses / Prader–Willi syndrome

PRADER-­‐WILLI  SYNDROME   FAMILY  SUPPORT  NEWSLETTER   TASMANIA   12th  February  2015    

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Source URL: www.dhhs.tas.gov.au

Language: English - Date: 2015-02-17 20:47:59
114Health / Proteins / Neurological disorders / Ataxia telangiectasia / Genodermatoses / Ataxia / Chromosome 11 / DNA repair / Dystonia / Biology / Neurodegenerative disorders / Genetics

HK J Paediatr (new series) 2003;8:[removed]Case Reports Ataxia Telangiectasia: Case Report of Three Affected Brothers and Review of the Literature BSK CHIU, VWS LAU, KF HUEN

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Source URL: www.fmshk.com.hk

Language: English - Date: 2006-06-28 04:20:34
115Cytogenetics / Chromosomal abnormalities / Genodermatoses / Turner syndrome / Monosomy / X chromosome / Growth hormone treatment / Aneuploidy / Noonan syndrome / Genetics / Health / Syndromes

Why am I so short? A common reason for referral to the genetic counselling service is short stature. Patients often ask why they are short and if there is any treatment. To answer these questions, it is necessary to star

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Source URL: www.dh.gov.hk

Language: English - Date: 2013-04-08 23:51:23
116Medical tests / Genodermatoses / Rare diseases / Medical specialties / Von Hippel–Lindau tumor suppressor / Von Hippel–Lindau disease / Genetic testing / Genetic counseling / Renal cell carcinoma / Medicine / Health / Medical genetics

Microsoft Word[removed]VHL final PSD @ [removed]for web release.doc

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Source URL: www.msac.gov.au

Language: English - Date: 2014-11-06 23:49:23
117Junctional epidermolysis bullosa gravis / Epidermolysis bullosa dystrophica / Genodermatoses / Epidermolysis bullosa / EB

Microsoft Word - Webpage changes V2.doc

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Source URL: www.health.gov.au

Language: English - Date: 2015-03-20 08:47:39
118Medical tests / Rare diseases / Genodermatoses / Medical specialties / Von Hippel–Lindau tumor suppressor / Von Hippel–Lindau disease / Genetic testing / Genetic counseling / Hemangioblastoma / Medicine / Health / Medical genetics

Public Summary Document Application No. 1153 – Genetic Testing for Hereditary Mutations in the VHL Gene that Cause von Hippel-Lindau (VHL) syndrome

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Source URL: www.msac.gov.au

Language: English - Date: 2014-11-06 23:49:24
119Congenital heart disease / Genodermatoses / Developmental biology / ICD-10 Chapter XVII: Congenital malformations /  deformations and chromosomal abnormalities / Congenital disorders / Fistula / Congenital heart defect / VACTERL association / Esophageal atresia / Health / Medicine / Syndromes

Notification of Congenital Malformation

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Source URL: www.dh.gov.hk

Language: English - Date: 2013-05-09 06:31:52
120Junctional epidermolysis bullosa gravis / Dominant dystrophic epidermolysis bullosa / Genodermatoses / Epidermolysis bullosa / Recessive dystrophic epidermolysis bullosa

Horizon Scanning Technology

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Source URL: www.horizonscanning.gov.au

Language: English - Date: 2015-03-11 00:29:42
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