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Results 1 - 10 of 571 for patient
  1. CREBBP gene 
    ... sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet. 2005 Sep;117( ...
    https://medlineplus.gov/genetics/gene/crebbp - Genetics
  2. CHD7 gene 
    ... Crowley WF Jr. Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. Proc Natl Acad Sci ... results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome. J Clin Endocrinol Metab. 2012 ...
    https://medlineplus.gov/genetics/gene/chd7 - Genetics
  3. ASS1 gene 
    ... the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations. Hum Mutat. 2017 ... and genotype-phenotype correlation in 38 classical citrullinemia patients. Hum Mutat. 2003 Jul;22(1):24-34. ...
    https://medlineplus.gov/genetics/gene/ass1 - Genetics
  4. DHH gene 
    ... Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. J ... heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis. Mol Hum Reprod. 2005 ...
    https://medlineplus.gov/genetics/gene/dhh - Genetics
  5. USH2A gene 
    ... the USH2A gene in a cohort of 433 patients. JAMA Ophthalmol. 2015 Feb;133(2):157-64. ... the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
  6. SCN5A gene 
    ... Brugada syndrome--an under-recognized electrical disease in patients with sudden cardiac death. Cardiology. 2004;101(4): ... in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. ...
    https://medlineplus.gov/genetics/gene/scn5a - Genetics
  7. MEFV gene 
    ... SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever. Arthritis Rheum. 2003 Apr; ... J, Megarbane A. Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA ...
    https://medlineplus.gov/genetics/gene/mefv - Genetics
  8. SAA1 gene 
    ... and on SAA/C-reactive protein values in patients with familial mediterranean fever in the Turkish population. ... SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever. Arthritis Rheum. 2003 Apr; ...
    https://medlineplus.gov/genetics/gene/saa1 - Genetics
  9. PEPD gene 
    ... delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability. Am ... E, Cetta G. Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme ...
    https://medlineplus.gov/genetics/gene/pepd - Genetics
  10. RPL5 gene 
    ... and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia. Hum Mutat. 2009 Mar; ... of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia. Pediatr Blood Cancer. 2014 ...
    https://medlineplus.gov/genetics/gene/rpl5 - Genetics
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