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Results 61 - 70 of 1,161 for patient
  1. Sporadic hemiplegic migraine 
    ... analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine. Neurology. 2007 Dec 4;69( ... C, Bassi MT. The genetic features of 24 patients affected by familial and sporadic hemiplegic migraine. Neurol ...
    https://medlineplus.gov/.../condition/sporadic-hemiplegic-migraine - Genetics
  2. Warfarin resistance 
    ... Sharawy S. VKORC1 and CYP2C9 genotypes in Egyptian patients with warfarin resistance. Blood Coagul Fibrinolysis. 2016 Mar; ... genes and the therapeutic warfarin dose in Brazilian patients with thrombosis: a prospective cohort study. Mol Diagn ...
    https://medlineplus.gov/genetics/condition/warfarin-resistance - Genetics
  3. PNP gene 
    ... 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/genetics/gene/pnp - Genetics
  4. VACTERL association 
    ... Identification of a HOXD13 mutation in a VACTERL patient. Am J Med Genet A. 2008 Dec 15; ... Cummings DA. Analysis of component findings in 79 patients diagnosed with VACTERL association. Am J Med Genet ...
    https://medlineplus.gov/genetics/condition/vacterl-association - Genetics
  5. PHEX gene 
    ... PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. ... and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets. Calcif Tissue Int. ...
    https://medlineplus.gov/genetics/gene/phex - Genetics
  6. SCNN1B gene 
    ... in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. Hum Mutat. 2009 ... Cuppens H, Bours V. Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel ...
    https://medlineplus.gov/genetics/gene/scnn1b - Genetics
  7. KRT14 gene 
    ... and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and ... cause epidermolysis bullosa simplex in 75% of the patients. Br J Dermatol. 2011 Mar;164(3):637- ...
    https://medlineplus.gov/genetics/gene/krt14 - Genetics
  8. ARSA gene 
    ... ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of ... A. Molecular bases of metachromatic leukodystrophy in Polish patients. J Hum Genet. 2010 Jun;55(6):394- ...
    https://medlineplus.gov/genetics/gene/arsa - Genetics
  9. SELENON gene 
    ... M, Moroni I. SEPN1-related myopathy in three patients: novel mutations and diagnostic clues. Eur J Pediatr. ... phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. Eur J ...
    https://medlineplus.gov/genetics/gene/selenon - Genetics
  10. PITX2 gene 
    ... and PITX2 mutations and copy number changes in patients with anterior segment malformations. Invest Ophthalmol Vis Sci. ... mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome. Invest Ophthalmol Vis Sci. ...
    https://medlineplus.gov/genetics/gene/pitx2 - Genetics
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