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Results 21 - 30 of 1,161 for patient
  1. 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
  2. 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
  3. 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
  4. How does genetic testing in a research setting differ from clinical genetic testing?: MedlinePlus Genetics 
    ... a research study are usually not available to patients or their healthcare providers. Clinical testing, on the ... out about an inherited disorder in an individual patient or family. People receive the results of a ...
    https://medlineplus.gov/.../understanding/testing/researchtesting - Genetics
  5. BAP1 tumor predisposition syndrome 
    ... E, Pass H, Yang H, Carbone M. Mesothelioma patients with germline BAP1 mutations have 7-fold improved ... of BAP1 Expression in Basal Cell Carcinomas in Patients With Germline BAP1 Mutations. Am J Clin Pathol. ...
    https://medlineplus.gov/.../bap1-tumor-predisposition-syndrome - Genetics
  6. Loeys-Dietz syndrome 
    ... Zhou Z, Chang Q. Genetic testing of 10 patients with features of Loeys-Dietz syndrome. Clin Chim ... Evangelista A. Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome. Heart. 2016 Apr;102( ...
    https://medlineplus.gov/genetics/condition/loeys-dietz-syndrome - Genetics
  7. Autosomal dominant hyper-IgE syndrome 
    ... J, Puck JM, Holland SM. Brain abnormalities in patients with hyperimmunoglobulin E syndrome. Pediatrics. 2007 May;119( ... Q, Ochs HD. STAT3 mutation in the original patient with Job's syndrome. N Engl J Med. ...
    https://medlineplus.gov/.../autosomal-dominant-hyper-ige-syndrome - Genetics
  8. Purine nucleoside phosphorylase deficiency 
    ... Aghamohammadi A. The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the ... Roifman CM. Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency. Nucleosides Nucleotides Nucleic ...
    https://medlineplus.gov/...urine-nucleoside-phosphorylase-deficiency - Genetics
  9. SLC25A13 gene 
    ... Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in ... mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. J Hum Genet. 2005;50( ...
    https://medlineplus.gov/genetics/gene/slc25a13 - Genetics
  10. IVD gene 
    ... associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am ... Tsai FJ. Genetic mutation profile of isovaleric acidemia patients in Taiwan. Mol Genet Metab. 2007 Feb;90( ...
    https://medlineplus.gov/genetics/gene/ivd - Genetics
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