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Results 1 - 7 of 7 for Definitions
  1. TYR gene 
    ... Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. Hum Genet. 2003 Nov;113( ...
    https://medlineplus.gov/genetics/gene/tyr - Genetics
  2. CHST3 gene 
    ... K, Robertson SP. Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype. Am J Med Genet A. ...
    https://medlineplus.gov/genetics/gene/chst3 - Genetics
  3. ELP1 gene 
    ... N, Burge CB, Slaugenhaupt SA, Reed R. Weak definition of IKBKAP exon 20 leads to aberrant splicing ...
    https://medlineplus.gov/genetics/gene/elp1 - Genetics
  4. TUBB2B gene 
    ... Valente EM, Borgatti R. Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. Eur ...
    https://medlineplus.gov/genetics/gene/tubb2b - Genetics
  5. GCK gene 
    ... al. Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. N Engl ...
    https://medlineplus.gov/genetics/gene/gck - Genetics
  6. TNFRSF1A gene 
    ... Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to ...
    https://medlineplus.gov/genetics/gene/tnfrsf1a - Genetics
  7. RARS2 gene 
    ... hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in ...
    https://medlineplus.gov/genetics/gene/rars2 - Genetics