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 31 - 40 of 1,161 for patient
  1. Progressive myoclonic epilepsy type 1 
    ... progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients. Eur J Hum Genet. 2007 Feb;15(2): ... limited progression: long-term follow-up of 20 patients. Epilepsia. 2006 May;47(5):860-6. doi: ...
    https://medlineplus.gov/.../progressive-myoclonic-epilepsy-type-1 - Genetics
  2. Wolf-Hirschhorn syndrome 
    ... of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision. Am J ... MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia. J Dent Res. 2003 Dec;82( ...
    https://medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome - Genetics
  3. Trichorhinophalangeal syndrome type II 
    ... MM, Hennekam RC. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. Eur J Med ... Giedion A. Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications. ...
    https://medlineplus.gov/.../trichorhinophalangeal-syndrome-type-ii - Genetics
  4. TCOF1 gene 
    ... G. Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. BMC Med Genet. 2011 ... analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis. ...
    https://medlineplus.gov/genetics/gene/tcof1 - Genetics
  5. EP300 gene 
    ... syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. J Med Genet. 2007 ... D, Hennekam RC. Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. ...
    https://medlineplus.gov/genetics/gene/ep300 - Genetics
  6. 2q37 deletion syndrome 
    ... Dennis NR, Trembath RC. Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion ... Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 ...
    https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome - Genetics
  7. MUTYH gene 
    ... germline mutations in Swiss APC mutation-negative polyposis patients. Int J Cancer. 2006 Apr 15;118(8): ... of MYH gene mutations in a subset of patients with familial adenomatous polyposis. Gastroenterology. 2004 Jun;126( ...
    https://medlineplus.gov/genetics/gene/mutyh - Genetics
  8. Mucolipidosis III alpha/beta 
    ... meets Mucolipidosis II: GNPTA gene mutations in 24 patients. Mol Genet Metab. 2006 Aug;88(4):359- ... III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet. 2009 ...
    https://medlineplus.gov/.../condition/mucolipidosis-iii-alpha-beta - Genetics
  9. X-linked congenital stationary night blindness 
    ... Pearce WG, Bech-Hansen NT. Clinical variability among patients with incomplete X-linked congenital stationary night blindness ... of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. Graefes ...
    https://medlineplus.gov/...ked-congenital-stationary-night-blindness - Genetics
  10. NPC2 gene 
    ... Drevon H, Vanier MT, Pineda M. Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J ... NPC2 mutations and clinical and molecular update on patients with NPC2. Clin Genet. 2007 Apr;71(4): ...
    https://medlineplus.gov/genetics/gene/npc2 - Genetics
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next