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 1 - 10 of 547 for patient
  1. Kabuki syndrome 
    ... Matsumoto N, Niikawa N. Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome. J Hum Genet. 2009 May; ... a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet. 2012 ...
    https://medlineplus.gov/genetics/condition/kabuki-syndrome - Genetics
  2. 17-beta hydroxysteroid dehydrogenase 3 deficiency 
    ... Odermatt A, Belguith N. Novel cases of Tunisian patients with mutations in the gene encoding 17beta-hydroxysteroid ... Guerra-Junior G. Clinical and molecular spectrum of patients with 17beta-hydroxysteroid dehydrogenase type 3 (17-beta- ...
    https://medlineplus.gov/...hydroxysteroid-dehydrogenase-3-deficiency - Genetics
  3. Rubinstein-Taybi syndrome 
    ... syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. J Med Genet. 2007 ... sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another ...
    https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome - Genetics
  4. Pelizaeus-Merzbacher disease 
    ... Bessert D, Skoff RP. Novel pathologic findings in patients with Pelizaeus-Merzbacher disease. Neurosci Lett. 2016 Aug ... Zacharska D, Szczepanik E. Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis. Folia Neuropathol. 2016;54( ...
    https://medlineplus.gov/.../condition/pelizaeus-merzbacher-disease - Genetics
  5. Nonbullous congenital ichthyosiform erythroderma 
    ... Sprecher E, Hennies HC. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation ... and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 2005 ...
    https://medlineplus.gov/...ous-congenital-ichthyosiform-erythroderma - Genetics
  6. Niemann-Pick disease 
    ... Lefeber D, Poorthuis BJ. Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients. Mol Genet Metab. 2012 Nov;107(3):526- ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  7. Glutaric acidemia type I 
    ... JA, Muenzer J. Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina. Mol Genet ... CR. Oxidative damage in glutaric aciduria type I patients and the protective effects of l-carnitine treatment. ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i - Genetics
  8. Glutaric acidemia type II 
    ... sudden death and acute life-threatening events in patients with glutaric acidemia type II. Mol Genet Metab. ... Olsen RK. Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii - Genetics
  9. Prolidase deficiency 
    ... 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/condition/prolidase-deficiency - Genetics
  10. Mitochondrial trifunctional protein deficiency 
    ... S. Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian ... HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency. Mol Genet Metab. ...
    https://medlineplus.gov/...hondrial-trifunctional-protein-deficiency - Genetics
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next