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Results 41 - 50 of 587 for RA
  1. Pyridoxal phosphate-responsive seizures 
    ... Z, Hershckowitz S, Sheffer VF, Elisha MB, Wevers RA, Falik-Zaccai TC. PNPO deficiency: an under diagnosed ... May 15. Citation on PubMed Mills PB, Surtees RA, Champion MP, Beesley CE, Dalton N, Scambler PJ, ...
    https://medlineplus.gov/.../pyridoxal-phosphate-responsive-seizures - Genetics
  2. Barth syndrome 
    ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ... Taylor CT, Maisenbacher MK, Versluys B, Newbury-Ecob RA, Ozsahin H, Damin MK, Bowen VM, McCurdy KR, ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  3. Primary hyperoxaluria 
    ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ...
    https://medlineplus.gov/genetics/condition/primary-hyperoxaluria - Genetics
  4. Methylmalonic acidemia with homocystinuria 
    ... JBA, Malovannaya A, Martin JF, Rosenblatt DS, Poche RA. Mutations in Hcfc1 and Ronin result in an ... H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
  5. Trimethylaminuria 
    ... Disorders (NORD) ClinicalTrials.gov TRIMETHYLAMINURIA; TMAU PubMed Chalmers RA, Bain MD, Michelakakis H, Zschocke J, Iles RA. Diagnosis and management of trimethylaminuria (FMO3 deficiency) in ...
    https://medlineplus.gov/genetics/condition/trimethylaminuria - Genetics
  6. Arts syndrome 
    ... MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H. Arts syndrome is ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ...
    https://medlineplus.gov/genetics/condition/arts-syndrome - Genetics
  7. Dystrophic epidermolysis bullosa 
    ... America (DebRA) Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, Heagerty A, ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ...
    https://medlineplus.gov/.../dystrophic-epidermolysis-bullosa - Genetics
  8. Kindler epidermolysis bullosa 
    ... C, Didona B, Zambruno G, Patrizi A, Eady RA, McGrath JA. Recurrent mutations in kindlin-1, a ... F, Zaghloul AB, Hamada T, Mallipeddi R, Eady RA, McLean WH, McGrath JA, Epstein EH. Loss of ...
    https://medlineplus.gov/.../condition/kindler-epidermolysis-bullosa - Genetics
  9. Loeys-Dietz syndrome 
    ... Myers L, Halushka MK, Oliva-Hemker M, Wood RA, Dietz HC. TGFbeta receptor mutations impose a strong ... Zeinstra SM, van Meer BL, Pals G, Oldenburg RA, Bekkers JA, Moelker A, de Graaf BM, Matyas ...
    https://medlineplus.gov/genetics/condition/loeys-dietz-syndrome - Genetics
  10. Aminoacylase 1 deficiency 
    ... S, Calvin J, Hart C, Omran H, Wevers RA. NMR spectroscopy of aminoacylase 1 deficiency, a novel ... Weiler P, Kispert A, Superti-Furga A, Wevers RA, Omran H. Mutations in ACY1, the gene encoding ...
    https://medlineplus.gov/genetics/condition/aminoacylase-1-deficiency - Genetics
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