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Results 51 - 60 of 1,161 for patient
  1. Tay-Sachs disease 
    ... Caillaud C, Nadjar Y. Natural History of Adult Patients with GM2 Gangliosidosis. Ann Neurol. 2020 Apr;87( ... Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: ...
    https://medlineplus.gov/genetics/condition/tay-sachs-disease - Genetics
  2. Hajdu-Cheney syndrome 
    ... in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome. Am J ... Miller KK, Mannstadt M. Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome. Osteoporos Int. 2013 Aug; ...
    https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome - Genetics
  3. FOXP3 gene 
    ... Defective regulatory and effector T cell functions in patients with FOXP3 mutations. J Clin Invest. 2006 Jun; ... CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations. Clin Immunol. 2007 Dec; ...
    https://medlineplus.gov/genetics/gene/foxp3 - Genetics
  4. POLH gene 
    ... in DNA polymerase eta in xeroderma pigmentosum-variant patients. Proc Natl Acad Sci U S A. 2002 ... R, Schneider TD, Kraemer KH. Xeroderma pigmentosum-variant patients from America, Europe, and Asia. J Invest Dermatol. ...
    https://medlineplus.gov/genetics/gene/polh - Genetics
  5. Williams syndrome 
    ... Jurado LA. Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of ... Deutsch N. Risk assessment and anesthetic management of patients with Williams syndrome: a comprehensive review. Paediatr Anaesth. ...
    https://medlineplus.gov/genetics/condition/williams-syndrome - Genetics
  6. PACS1 syndrome 
    ... PubMed Dutta AK. Schuurs-Hoeijmakers syndrome in a patient from India. Am J Med Genet A. 2019 ... T, Kosaki K. Schuurs-Hoeijmakers syndrome in two patients from Japan. Am J Med Genet A. 2019 ...
    https://medlineplus.gov/genetics/condition/pacs1-syndrome - Genetics
  7. MECP2 duplication syndrome 
    ... variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. Eur J Hum Genet. 2009 ...
    https://medlineplus.gov/.../condition/mecp2-duplication-syndrome - Genetics
  8. X-linked adrenoleukodystrophy 
    ... L, Moser HW. Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening. ... NH, Odone A. Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil. Arch ...
    https://medlineplus.gov/.../condition/x-linked-adrenoleukodystrophy - Genetics
  9. UPB1 gene 
    ... Clinical, biochemical and molecular analysis of 13 Japanese patients with beta-ureidopropionase deficiency demonstrates high prevalence of ... phenotype, genotype and protein structural consequences in 16 patients. Biochim Biophys Acta. 2012 Jul;1822(7):1096- ...
    https://medlineplus.gov/genetics/gene/upb1 - Genetics
  10. X-linked adrenal hypoplasia congenita 
    ... point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita. Ann Pediatr Endocrinol Metab. ... hypoplasia congenita: clinical and molecular analysis in five patients. Eur J Endocrinol. 2006 May;154(5):685- ...
    https://medlineplus.gov/.../x-linked-adrenal-hypoplasia-congenita - Genetics
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