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Human Genetics, ISSN 0340-6717, 4/2002, Volume 110, Issue 4, pp. 371 - 376
Journal Article
Journal of Neurology Neurosurgery and Psychiatry, ISSN 0022-3050, 1999, Volume 66, Issue 6, pp. 759 - 763
Journal Article
Clinical Dysmorphology, ISSN 0962-8827, 01/2012, Volume 21, Issue 1, pp. 24 - 26
Hypohidrotic/ anhidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to... 
GENETICS & HEREDITY | Anodontia - genetics | Hypohidrosis - genetics | Humans | Ectodermal Dysplasia - diagnosis | Sweating - genetics | Infant | Male | Ectodermal Dysplasia - genetics | Heat Stroke | Syndactyly - genetics
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2004, Volume 131A, Issue 1, pp. 1 - 10
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/2012, Volume 367, Issue 14, p. 1321
The article discusses about copy-number variants, which are associated with genomic disorder with extreme phenotypic heterogeneity, whose variation is unknown... 
Care and treatment | Phenotype | Genetic disorders | Diagnosis | Research | Genetic variation
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 12/2010, Volume 87, Issue 6, p. 905
CK syndrome (CKS) is an X-linked recessive intellectual disability syndrome characterized by dysmorphism, cortical brain malformations, and an asthenic build.... 
Yeast | Protein folding | Genetic linkage | Learning disabilities | Mutation | Chromosomes | Cholesterol | Cells
Journal Article
Human Mutation, ISSN 1059-7794, 03/2012, Volume 33, Issue 3, p. 66
Renal coloboma syndrome, also known as papillorenal syndrome is an autosomal-dominant disorder characterized by ocular and renal malformations. Mutations in... 
Basic Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Humans | Databases, Genetic | PAX2 Transcription Factor/genetics | Medicinsk genetik | Medical Genetics | Animals | Coloboma/genetics | Medicinska och farmaceutiska grundvetenskaper | Renal Insufficiency/genetics | Vesico-Ureteral Reflux/genetics
Journal Article
Journal Article
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 2010, Volume 9999B, p. n/a
Journal Article