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- ... Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. Hum Genet. 2003 Nov;113( ...
- ... K, Robertson SP. Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype. Am J Med Genet A. ...
- ... al. Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. N Engl ...
- ... hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in ...
- ... Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to ...
- ... Valente EM, Borgatti R. Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. Eur ...
- ... N, Burge CB, Slaugenhaupt SA, Reed R. Weak definition of IKBKAP exon 20 leads to aberrant splicing ...