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Results 1 - 10 of 85 for Gas
  1. Glutaric acidemia type II 
    ... ETFA deficiency ETFB deficiency ETFDH deficiency Ethylmalonic-adipicaciduria GA II Glutaric acidemia, type 2 Glutaric aciduria, type ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii - Genetics
  2. Glutaric acidemia type I 
    ... not show signs and symptoms of the condition. GA I Glutaric acidemia I Glutaric acidemia type 1 ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i - Genetics
  3. Vitelliform macular dystrophy 
    Vitelliform macular dystrophy is a genetic eye disorder that can cause worsening (progressive) vision loss. This disorder affects the retina, the specialized light- ...
    https://medlineplus.gov/.../condition/vitelliform-macular-dystrophy - Genetics
  4. Andermann syndrome 
    ... JL, Robitaille YO, Richardson J, Dion PA, Rouleau GA, Shekarabi M. KCC3 axonopathy: neuropathological features in the ... PubMed Dupre N, Bouchard JP, Brais B, Rouleau GA. Hereditary ataxia, spastic paraparesis and neuropathy in the ...
    https://medlineplus.gov/genetics/condition/andermann-syndrome - Genetics
  5. Hereditary sensory and autonomic neuropathy type II 
    ... YP, Younghusband HB, Hayden MR, Sherrington R, Rouleau GA, Samuels ME. Identification of a novel gene (HSN2) ... AM, Baets J, Houlden H, Brais B, Nicholson GA, Van Esch H, Nafissi S, De Jonghe P, ...
    https://medlineplus.gov/...-sensory-and-autonomic-neuropathy-type-ii - Genetics
  6. Hereditary sensory and autonomic neuropathy type IE 
    ... NC, Khoury J, Botuyan MV, Mer G, Worrell GA, Hojo K, DeLeon J, Laura M, Liu YT, ... Y, Kwok J, Mer G, Dyck PJ, Nicholson GA. DNMT1 mutation hot spot causes varied phenotypes of ...
    https://medlineplus.gov/...-sensory-and-autonomic-neuropathy-type-ie - Genetics
  7. Clouston syndrome 
    ... VM, Brais B, Hani V, Fraser FC, Rouleau GA. The gene responsible for Clouston hidrotic ectodermal dysplasia ... Christianson AL, Fraser FC, Der Kaloustian VM, Rouleau GA. Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence ...
    https://medlineplus.gov/genetics/condition/clouston-syndrome - Genetics
  8. Campomelic dysplasia 
    ... No abstract available. Citation on PubMed Bien-Willner GA, Stankiewicz P, Lupski JR. SOX9cre1, a cis-acting ... on PubMed Leipoldt M, Erdel M, Bien-Willner GA, Smyk M, Theurl M, Yatsenko SA, Lupski JR, ...
    https://medlineplus.gov/genetics/condition/campomelic-dysplasia - Genetics
  9. Restless legs syndrome 
    ... AFR, Shah SH, Gieger C, Peters A, Rouleau GA, Berger K, Oexle K, Di Angelantonio E, Hinds ... CG, Paulus W, Xiong L, Montplaisir J, Rouleau GA, Fietze I, Vavrova J, Kemlink D, Sonka K, ...
    https://medlineplus.gov/genetics/condition/restless-legs-syndrome - Genetics
  10. Autosomal recessive cerebellar ataxia type 1 
    ... de Verteuil D, Brais B, Bouchard JP, Rouleau GA. Clinical and genetic study of autosomal recessive cerebellar ... S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA. Mutations in SYNE1 lead to a newly discovered ...
    https://medlineplus.gov/...osomal-recessive-cerebellar-ataxia-type-1 - Genetics
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