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Results 71 - 80 of 1,161 for patient
  1. RPL11 gene 
    ... and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia. Hum Mutat. 2009 Mar; ... palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet. 2008 Dec;83(6): ...
    https://medlineplus.gov/genetics/gene/rpl11 - Genetics
  2. Metachromatic leukodystrophy 
    ... activator protein B deficiency: report of 9 Saudi patients and review of the literature. J Child Neurol. ... IV. Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy. J Inherit Metab Dis. 2010 ...
    https://medlineplus.gov/.../condition/metachromatic-leukodystrophy - Genetics
  3. Hypermethioninemia 
    ... Mudd SH. Glycine N -methyltransferase deficiency: a new patient with a novel mutation. J Inherit Metab Dis. ... Mudd SH. S-Adenosylhomocysteine hydrolase deficiency: a second patient, the younger brother of the index patient, and ...
    https://medlineplus.gov/genetics/condition/hypermethioninemia - Genetics
  4. Supravalvular aortic stenosis 
    ... mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis. Eur J Hum ... M. Elastin mutation screening in a group of patients affected by vascular abnormalities. Pediatr Cardiol. 2005 Nov- ...
    https://medlineplus.gov/.../condition/supravalvular-aortic-stenosis - Genetics
  5. Silver-Russell syndrome 
    ... phenotype: multigene sequencing analysis in 92 etiology-unknown patients. Clin Epigenetics. 2020 Jun 16;12(1):86. ... Kagami M. Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 ...
    https://medlineplus.gov/genetics/condition/silver-russell-syndrome - Genetics
  6. Alternating hemiplegia of childhood 
    ... AHC Consortium; International AHC Consortium. Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. Orphanet J Rare Dis. 2015 Sep 26;10: ...
    https://medlineplus.gov/.../alternating-hemiplegia-of-childhood - Genetics
  7. Congenital nephrotic syndrome 
    ... in a worldwide cohort of congenital nephrotic syndrome patients. Nephron Clin Pract. 2012;120(3):c139-46. ... MG, Pollak MR. Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic Era. Semin ...
    https://medlineplus.gov/.../condition/congenital-nephrotic-syndrome - Genetics
  8. Factor V deficiency 
    ... MJ. Molecular characterization of 11 novel mutations in patients with heterozygous and homozygous FV deficiency. Haemophilia. 2010 ... Oldenburg J. Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency. Haemophilia. ...
    https://medlineplus.gov/genetics/condition/factor-v-deficiency - Genetics
  9. Thiopurine S-methyltransferase deficiency 
    ... bruising and bleeding.Many healthcare providers recommend that patients' TPMT activity levels be tested before thiopurine drugs ... of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine. J Clin Oncol. ...
    https://medlineplus.gov/...thiopurine-s-methyltransferase-deficiency - Genetics
  10. Hereditary multiple osteochondromas 
    ... Casey B. Evaluation of the anatomic burden of patients with hereditary multiple exostoses. Clin Orthop Relat Res. ... G, Krauspe R. Clinical outcome and genotype in patients with hereditary multiple exostoses. J Orthop Res. 2007 ...
    https://medlineplus.gov/.../hereditary-multiple-osteochondromas - Genetics
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