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Results 1 - 10 of 42 for Cohen syndrome
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  1. VPS13B gene 
    ... VPS13B gene have been found in individuals with Cohen syndrome. Individuals with this condition typically have intellectual disability, ... truncal obesity). Most of the mutations that cause Cohen syndrome result in a premature stop signal in the ...
    https://medlineplus.gov/genetics/gene/vps13b - Genetics
  2. GNAQ gene 
    ... Juhasz C, North P, Ball KL, Levin AV, Cohen B, Morris J, Lo W, Roach ES; 2015 Sturge-Weber Syndrome Research Workshop. Leveraging a Sturge-Weber Gene Discovery: ...
    https://medlineplus.gov/genetics/gene/gnaq - Genetics
  3. ANOS1 gene 
    ... S, Wunderle V, Millasseau P, Le Paslier D, Cohen D, Caterina D, et al. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell. ...
    https://medlineplus.gov/genetics/gene/anos1 - Genetics
  4. TNXB gene 
    ... on PubMed Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, Levy H. Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III ...
    https://medlineplus.gov/genetics/gene/tnxb - Genetics
  5. 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
  6. 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
  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. 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
  9. 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
  10. SCN5A 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/scn5a - Genetics
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