Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 41 - 50 of 1,161 for patient
  1. Lennox-Gastaut syndrome 
    ... Buchhalter JR. Long-term seizure outcome in 74 patients with Lennox-Gastaut syndrome: effects of incorporating MRI ... DE, Brodtkorb E. SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features. Epilepsy Behav. 2009 ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  2. ACVR1 gene 
    ... BMP-p38 MAPK signaling pathway in cells from patients with fibrodysplasia ossificans progressiva (FOP). J Bone Miner ... mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva. J Hum Genet. 2006; ...
    https://medlineplus.gov/genetics/gene/acvr1 - Genetics
  3. FZD4 gene 
    ... Hayashi K. Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. Br ... P. Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy. Mol Vis. 2006 Sep ...
    https://medlineplus.gov/genetics/gene/fzd4 - Genetics
  4. Cytochrome P450 oxidoreductase deficiency 
    ... impaired steroidogenesis: molecular and clinical studies in 10 patients. J Clin Endocrinol Metab. 2005 Jan;90(1): ... and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. Am ...
    https://medlineplus.gov/...cytochrome-p450-oxidoreductase-deficiency - Genetics
  5. MTHFR gene 
    ... polymorphism of the MTHFR gene in North Indian patients with vascular disease. Vascular. 2012 Apr;20(2): ... mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. Hum Mutat. 2000;15(3):280- ...
    https://medlineplus.gov/genetics/gene/mthfr - Genetics
  6. Arginine vasopressin deficiency 
    ... Christ-Crain M. Central diabetes insipidus from a patient's perspective: management, psychological co-morbidities, and renaming ... and radiological features in a large cohort of patients with central diabetes insipidus of known and unknown ...
    https://medlineplus.gov/.../arginine-vasopressin-deficiency - Genetics
  7. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome 
    ... 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/...ocrinopathy-enteropathy-x-linked-syndrome - Genetics
  8. Familial adenomatous polyposis 
    ... Multicenter experience with upper gastrointestinal polyps in pediatric patients with familial adenomatous polyposis. Am J Gastroenterol. 2004 ... evidence for differences in somatic mutation spectra among patients. Oncogene. 2003 Jul 3;22(27):4257-65. ...
    https://medlineplus.gov/.../condition/familial-adenomatous-polyposis - Genetics
  9. CDKN1C gene 
    ... CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome. PLoS One. 2013 Sep 30; ... phenotype: multigene sequencing analysis in 92 etiology-unknown patients. Clin Epigenetics. 2020 Jun 16;12(1):86. ...
    https://medlineplus.gov/genetics/gene/cdkn1c - Genetics
  10. Very long-chain acyl-CoA dehydrogenase deficiency 
    ... A. VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. Mol Genet ... assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase ( ...
    https://medlineplus.gov/...g-chain-acyl-coa-dehydrogenase-deficiency - Genetics
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next