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Results 21 - 30 of 96 for Cohen syndrome
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  1. KCNK9 imprinting syndrome 
    ... National Organization for Rare Disorders (NORD) BIRK-BAREL SYNDROME; BIBARS PubMed Barel O, Shalev SA, Ofir R, Cohen A, Zlotogora J, Shorer Z, Mazor G, Finer ...
    https://medlineplus.gov/genetics/condition/kcnk9-imprinting-syndrome - Genetics
  2. MEGDEL syndrome 
    ... O, Goldsher D, Nousbeck J, Fuchs-Telem D, Cohen-Katsenelson K, Iancu TC, Manov I, Saada A, Sprecher E, Mandel H. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  3. KCNQ1 gene 
    ... HJ, Schulze-Bahr E, Haverkamp W, Breithardt G, Cohen N, Aerssens J. Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl). 2004 Mar;82( ...
    https://medlineplus.gov/genetics/gene/kcnq1 - Genetics
  4. Craniofrontonasal syndrome 
    ... PubMed Central Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach KL, Adams RH, Wieacker P. Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Am J Hum Genet. 2004 Jun;74(6): ...
    https://medlineplus.gov/.../condition/craniofrontonasal-syndrome - Genetics
  5. KCNH2 gene 
    ... HJ, Schulze-Bahr E, Haverkamp W, Breithardt G, Cohen N, Aerssens J. Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl). 2004 Mar;82( ...
    https://medlineplus.gov/genetics/gene/kcnh2 - Genetics
  6. Autism spectrum disorder 
    ... or Free article on PubMed Central Tordjman S, Cohen D, Coulon N, Anderson GM, Botbol M, Canitano R, Roubertoux PL. Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of ...
    https://medlineplus.gov/genetics/condition/autism-spectrum-disorder - Genetics
  7. KCNE1 gene 
    ... HJ, Schulze-Bahr E, Haverkamp W, Breithardt G, Cohen N, Aerssens J. Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl). 2004 Mar;82( ...
    https://medlineplus.gov/genetics/gene/kcne1 - Genetics
  8. Autoimmune lymphoproliferative syndrome 
    ... Oliveira JB, Puck JM, Jaffe ES, Pittaluga S, Cohen JI, Fleisher TA, Rao VK. Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood. 2010 Jun 24;115(25):5164-9. ...
    https://medlineplus.gov/.../autoimmune-lymphoproliferative-syndrome - Genetics
  9. FAS gene 
    ... Oliveira JB, Puck JM, Jaffe ES, Pittaluga S, Cohen JI, Fleisher TA, Rao VK. Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood. 2010 Jun 24;115(25):5164-9. ...
    https://medlineplus.gov/genetics/gene/fas - Genetics
  10. SLC19A2 gene 
    ... SLC19A2 NCBI Gene ClinVar Baron D, Assaraf YG, Cohen N, Aronheim A. Lack of plasma membrane targeting of a G172D mutant thiamine transporter derived from Rogers syndrome family. Mol Med. 2002 Aug;8(8):462- ...
    https://medlineplus.gov/genetics/gene/slc19a2 - Genetics
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