Genodermatoses

Results: 645



#Item
611Anatomy / Hairdressing / Medicine / Human hair color / Ectodermal dysplasia / Hair follicle / Cuticle / Hair / Androgenic hair / Health / Genodermatoses / Uncombable hair syndrome

185 Syndrome in question

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Source URL: www.scielo.br

Language: English - Date: 2008-05-13 12:54:17
612Mutation / Epidermolysis bullosa dystrophica / Collagen /  type VII /  alpha 1 / Recessive dystrophic epidermolysis bullosa / Epidermolysis bullosa / Point mutation / Missense mutation / Collagen / Anchoring fibrils / Biology / Genodermatoses / Collagen disease

Am. J. Hum. Genet. 58:[removed], 1996 Glycine Substitutions in the Triple-Helical Region of Type VII

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Source URL: www.ncbi.nlm.nih.gov

Language: English
613Syndromes / Vascular surgery / Genodermatoses / Turner syndrome / Congenital heart disease / Aortic dissection / Marfan syndrome / Coarctation of the aorta / Congenital heart defect / Health / Medicine / Circulatory system

Journal of Epidemiology and Community Health, 1986, 40, [removed]Mortality ratios, life expectancy, and causes of death in

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Source URL: www.ncbi.nlm.nih.gov

Language: English
614Genetics / Genodermatoses / Channelopathy / Genetic disorder / Victor A. McKusick / Genetic heterogeneity / Cartilage–hair hypoplasia / Marfan syndrome / Hereditary elliptocytosis / Health / Medicine / Syndromes

On Lumpers and Splitters, or the Nosology of Genetic Disease* VICTOR A. MCKUSICK,

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Source URL: profiles.nlm.nih.gov

Language: English - Date: 2008-10-22 10:29:54
615Neurofibroma / Genodermatoses / Neuro-cardio-facial-cutaneous syndromes / Neurofibromin 1 / NF1 / Carcinogenesis / University of Oulu / GTPase / Cell / Medicine / Biology / Health

NF1 tumor suppressor in skin. Expression in response to tissue trauma and in cellular differentiation

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Source URL: herkules.oulu.fi

Language: English - Date: 2002-04-12 07:07:10
616Congenital disorders / Rare diseases / Genodermatoses / Treacher Collins syndrome / Craniofacial team / Rhinoplasty / Cleft lip and palate / Hemifacial microsomia / Holoprosencephaly / Health / Medicine / Syndromes

TREACHER COLLINS SYNDROME (Mandibulofacial Dysostosis) John B. Mulliken, MD

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Source URL: www.facesofchildren.org

Language: English - Date: 2010-09-23 11:35:22
617Chromosomal abnormalities / Cytogenetics / Biology / Genodermatoses / Wolf–Hirschhorn syndrome / Chromosome abnormality / Deletion / Aneuploidy / Genetics / Health / Syndromes

European Journal of Human Genetics[removed], 519–526 © 2000 Macmillan Publishers Ltd

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Source URL: www.nature.com

Language: English - Date: 2009-12-14 09:17:16
618Syndromes / Genodermatoses / Ellis–van Creveld syndrome / Ectodermal dysplasia / EVC / Tooth / Chromosome 4 / Hypodontia / Taurodontism / Health / Anatomy / Medicine

Case Report Oral Manifestations in Ellis-van Creveld Syndrome:

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Source URL: www.dentistryforbabies.com

Language: English - Date: 2010-03-09 16:07:58
619Medicine / Biology / Cardiomyopathy / Cardiac dysrhythmia / Arrhythmogenic right ventricular dysplasia / Plakoglobin / Desmoplakin / Naxos syndrome / Carvajal syndrome / Health / Genodermatoses / Palmoplantar keratodermas

www.ipej.org 76 Review Article

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Source URL: www.ipej.org

Language: English - Date: 2005-04-10 18:09:18
620Rare diseases / Nail clubbing / Osteopathies / Primary hypertrophic osteoathropathy / Acropachy / Physical examination / Idiopathic pulmonary fibrosis / Cystic fibrosis / Cirrhosis / Health / Medicine / Genodermatoses

Clubbing: An update on diagnosis, differential diagnosis, pathophysiology, and clinical relevance Kerith E. Spicknall, BA, Matthew J. Zirwas, MD, and Joseph C. English III, MD

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Source URL: www.hakeem-sy.com

Language: English - Date: 2011-03-04 16:56:38
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