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Results 91 - 100 of 1,161 for patient
  1. CDKL5 deficiency disorder 
    ... Bienvenu T. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia. 2008 Jun;49(6): ... clinical and electroencephalographic long-term course in 4 patients. J Child Neurol. 2013 Jul;28(7):937- ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  2. Marinesco-Sjögren syndrome 
    ... mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjogren syndrome. J Neurol Sci. 2008 ... Schneider A, Wilcox WR. Phenotype-genotype correlations in patients with Marinesco-Sjogren syndrome. Clin Genet. 2014 Jul; ...
    https://medlineplus.gov/.../condition/marinesco-sjogren-syndrome - Genetics
  3. Glycogen storage disease type V 
    ... characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. ... molecular characterization of McArdle's disease in Brazilian patients. Neuromolecular Med. 2013 Sep;15(3):470-5. ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-v - Genetics
  4. PRKAR1A gene 
    ... dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab. ... kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet. 2000 Sep; ...
    https://medlineplus.gov/genetics/gene/prkar1a - Genetics
  5. KDM6A gene 
    ... a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet. 2012 ... therapy on a large cohort of Kabuki syndrome patients. Hum Mutat. 2014 Jul;35(7):841-50. ...
    https://medlineplus.gov/genetics/gene/kdm6a - Genetics
  6. FBN1 gene 
    ... JS, Milewicz DM, Belmont JW. FBN1 mutations in patients with descending thoracic aortic dissections. Am J Med ... delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. Am J Med ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  7. STAT1 gene 
    ... Grimbacher B. The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of- ... diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. J Leukoc Biol. 2014 ...
    https://medlineplus.gov/genetics/gene/stat1 - Genetics
  8. ELN gene 
    ... M. Elastin mutation screening in a group of patients affected by vascular abnormalities. Pediatr Cardiol. 2005 Nov- ... between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. ...
    https://medlineplus.gov/genetics/gene/eln - Genetics
  9. DYSF gene 
    ... R, Lochmuller H, Bushby K. New aspects on patients affected by dysferlin deficient muscular dystrophy. J Neurol ... DYSF mutational spectrum in a large cohort of patients. Hum Mutat. 2009 Feb;30(2):E345-75. ...
    https://medlineplus.gov/genetics/gene/dysf - Genetics
  10. PAX6 gene 
    ... M. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am ... GF. Mutation in the PAX6 gene in twenty patients with aniridia. Hum Mutat. 2000;15(4):332- ...
    https://medlineplus.gov/genetics/gene/pax6 - Genetics
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