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Results 1 - 10 of 21 for Confirmation
  1. Familial paroxysmal nonkinesigenic dyskinesia 
    ... in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Arch Neurol. 2005 Apr;62( ...
    https://medlineplus.gov/...lial-paroxysmal-nonkinesigenic-dyskinesia - Genetics
  2. Isolated Duane retraction syndrome 
    ... Evans JC, Frayling TM, Ellard S, Gutowski NJ. Confirmation of linkage of Duane's syndrome and refinement ...
    https://medlineplus.gov/.../isolated-duane-retraction-syndrome - Genetics
  3. AR gene 
    ... E, Bar-Natan M, Frydman M, Pras E. Confirmation of the association between male pattern baldness and ...
    https://medlineplus.gov/genetics/gene/ar - Genetics
  4. Nager syndrome 
    ... Manouvrier-Hanu S, Holder-Espinasse M. Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. Clin ...
    https://medlineplus.gov/genetics/condition/nager-syndrome - Genetics
  5. BBS10 gene 
    ... of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. Eur J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/bbs10 - Genetics
  6. NCSTN gene 
    ... Yang HM, Yang S, Li RQ, Zhang XJ. Confirmation by exome sequencing of the pathogenic role of ...
    https://medlineplus.gov/genetics/gene/ncstn - Genetics
  7. Cantú syndrome 
    ... in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the ...
    https://medlineplus.gov/genetics/condition/cantu-syndrome - Genetics
  8. PNKD gene 
    ... in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Arch Neurol. 2005 Apr;62( ...
    https://medlineplus.gov/genetics/gene/pnkd - Genetics
  9. Microphthalmia 
    ... Etchevers H, Malecaze F, Chassaing N, Calvas P. Confirmation of RAX gene involvement in human anophthalmia. Clin ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  10. CASK-related intellectual disability 
    ... in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
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