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Results 1 - 10 of 85 for Gas
  1. ... not show signs and symptoms of the condition. GA I Glutaric acidemia I Glutaric acidemia type 1 ...
  2. ... ETFA deficiency ETFB deficiency ETFDH deficiency Ethylmalonic-adipicaciduria GA II Glutaric acidemia, type 2 Glutaric aciduria, type ...
  3. Vitelliform macular dystrophy is a genetic eye disorder that can cause worsening (progressive) vision loss. This disorder affects the retina, the specialized light- ...
  4. ... 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 ...
  5. ... 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, ...
  6. ... 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, ...
  7. ... 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 ...
  8. ... 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 ...
  9. ... NORD) ClinicalTrials.gov REFSUM DISEASE, CLASSIC PubMed Jansen GA, Waterham HR, Wanders RJ. Molecular basis of Refsum ... J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJ. Identification of PEX7 as ...
  10. ... 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, ...
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