Genodermatoses

Results: 645



#Item
121Publishing / Cutis verticis gyrata / Genodermatoses / CVG / Diabetes / Syndromes / Lipodystrophy / Sculptra / Hindawi Publishing Corporation / Health / Medicine / HIV/AIDS

Hindawi Publishing Corporation Dermatology Research and Practice Volume 2013, Article ID[removed], 3 pages http://dx.doi.org[removed][removed]Research Article

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Source URL: downloads.hindawi.com

Language: English - Date: 2014-03-26 09:26:49
122Medical genetics / Coffin–Lowry syndrome / Mental retardation / Genodermatoses / RPS6KA3 / Ribosomal s6 kinase / X-linked mental retardation / Lujan-Fryns syndrome / Health / Syndromes / Genetic genealogy

Coffin–Lowry syndrome

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Source URL: www.nature.com

Language: English - Date: 2010-05-20 10:43:12
123Genetics / Transcription factors / Rare diseases / Genodermatoses / Congenital disorders / Van der Woude syndrome / IRF6 / Cleft lip and palate / Facial cleft / Health / Syndromes / Biology

New gene responsible for cleft lip and palate syndrome identified

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Source URL: medicalxpress.com

Language: English - Date: 2015-03-04 03:02:15
124Genodermatoses / Holocarboxylase synthetase deficiency / Multiple carboxylase deficiency / 3-Methylcrotonyl-CoA carboxylase deficiency / Newborn screening / Biotinidase deficiency / 3-hydroxy-3-methylglutaryl-CoA lyase deficiency / Biotin / Medical genetics / Medicine / Health / Pediatrics

American College of Medical Genetics ACT SHEET Newborn Screening ACT Sheet

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Source URL: www.babysfirsttest.org

Language: English - Date: 2012-11-09 11:16:32
125Syndromes / Genodermatoses / Papillon–Lefèvre syndrome / Periodontology / Periodontitis / Hindawi Publishing Corporation / Gingivitis / Cathepsin C / Oral hygiene / Health / Medicine / Dentistry

Hindawi Publishing Corporation Case Reports in Dentistry Volume 2013, Article ID[removed], 4 pages http://dx.doi.org[removed][removed]Case Report

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Source URL: downloads.hindawi.com

Language: English - Date: 2014-03-26 09:29:38
126Biology / Neurodegenerative disorders / Ataxia telangiectasia / Genodermatoses / Neurological disorders / Channelopathy / Fibromatosis / Aggressive fibromatosis / Ataxia / Health / Medicine / Proteins

Annals of Diagnostic Paediatric Pathology Official Journal of the Polish Paediatric Pathology Society and Section of Oncological Surgery of Polish Association of Paediatric Surgeons EDITOR-IN-CHIEF CO-EDITORS

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Source URL: archiwum.czd.pl

Language: English - Date: 2009-12-02 03:17:32
127Genodermatoses / Rare diseases / DNA replication / Telomerase / Dyskeratosis congenita / Haploinsufficiency / Anticipation / Revesz syndrome / Dyskerin / Health / Biology / Genetics

GeneDx 207 Perry Parkway Gaithersburg, MD[removed]Phone: [removed]Fax: [removed]E-mail: [removed]

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Source URL: www.genedx.com

Language: English - Date: 2013-03-06 09:13:43
128Genodermatoses / Syndromes / Prader–Willi syndrome / Chromosome 15 / Angelman syndrome / Non-coding RNA / Stem cell / Obesity / Small nucleolar RNA SNORD116 / Health / Biology / Genetics

Discovery of new type of RNA could have implications for some congenital disorders

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Source URL: medicalxpress.com

Language: English - Date: 2015-02-26 08:56:13
129Rare diseases / Autoantigens / Medicine / Transglutaminase / Lamellar ichthyosis / Ichthyosis / Liposome / Keratin / Lamella / Genodermatoses / Biology / Health

Technology Offer Ref.-No.0212 Use of transglutaminase 1-liposomes for topical enzyme replacement therapy for transglutaminase 1 deficient lamellar ichthyosis

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Source URL: www.fmp-berlin.info

Language: English - Date: 2012-11-09 08:31:39
130Epidermolysis bullosa / DebRA / EB / Laminin /  beta 3 / Genodermatoses / Rare diseases / Health

EPIDERMOLYSIS BULLOSA CENTRE CARE H.Hintner EB-house Austria, Salzburg Chafea Regional Conference on Rare Diseases Dec 2-3, 2014, Prague

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Source URL: ec.europa.eu

Language: English - Date: 2014-12-08 11:13:49
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