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Results 71 - 80 of 675 for p phenotype
  1. Christianson syndrome 
    ... FL, Schwartz C, Stevenson RE, Undlien DE, Stromme P. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet. 2008 ...
    https://medlineplus.gov/genetics/condition/christianson-syndrome - Genetics
  2. SMAD4 gene 
    ... Spranger S, Holinski-Feder E, Sunde L, Propping P, Friedl W. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis ...
    https://medlineplus.gov/genetics/gene/smad4 - Genetics
  3. ETFDH gene 
    ... PubMed Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. ...
    https://medlineplus.gov/genetics/gene/etfdh - Genetics
  4. Juvenile polyposis syndrome 
    ... Spranger S, Holinski-Feder E, Sunde L, Propping P, Friedl W. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis ...
    https://medlineplus.gov/.../condition/juvenile-polyposis-syndrome - Genetics
  5. SLC40A1 gene 
    ... De Muro M, Faienza F, Radio FC, Grammatico P, Musci G. Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 ...
    https://medlineplus.gov/genetics/gene/slc40a1 - Genetics
  6. CDKN1C gene 
    ... Mena R, Sanchez A, Del Campo M, Lapunzina P. CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. Am J Med ...
    https://medlineplus.gov/genetics/gene/cdkn1c - Genetics
  7. Glutaric acidemia type II 
    ... PubMed Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii - Genetics
  8. Bernard-Soulier syndrome 
    ... V, Pecci A, Magrin S, Balduini CL, Noris P. Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations. Haematologica. 2011 Mar;96(3):417-23. ...
    https://medlineplus.gov/genetics/condition/bernard-soulier-syndrome - Genetics
  9. Prolidase deficiency 
    ... AS, Mandel H, Khayat M, Gurevich I, Frankel P, Rivlin J, Falik-Zaccai TC. Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency: a newly recognized association. J ...
    https://medlineplus.gov/genetics/condition/prolidase-deficiency - Genetics
  10. Ophthalmo-acromelic syndrome 
    ... PubMed or Free article on PubMed Central Gambhir PS, Gambhir SP, Bankar SM. Ophthalmoacromelic syndrome: two further cases expanding the phenotype. Clin Dysmorphol. 2010 Apr;19(2):91-94. ...
    https://medlineplus.gov/.../condition/ophthalmo-acromelic-syndrome - Genetics
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