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RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
Bögershausen, Nina; Tsai, I-Chun; Pohl, Esther; Kiper, Pelin Özlem Simsek; Beleggia, Filippo; Percin, E Ferda; Keupp, Katharina; Matchan, Angela; Milz, Esther; Alanay, Yasemin; Kayserili, Hülya; Liu, Yicheng; Banka, Siddharth; Kranz, Andrea; Zenker, Martin; Wieczorek, Dagmar; Elcioglu, Nursel; Prontera, Paolo; Lyonnet, Stanislas; Meitinger, Thomas; Stewart, A Francis; Donnai, Dian; Strom, Tim M; Boduroglu, Koray; Yigit, Gökhan; Li, Yun; Katsanis, Nicholas; Wollnik, Bernd.
J Clin Invest ; 125(9): 3585-99, 2015 Sep.
Article in En | MEDLINE | ID: mdl-26280580
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Vestibular Diseases / Monomeric GTP-Binding Proteins / MAP Kinase Signaling System / Zebrafish Proteins / Telomere-Binding Proteins / Face / Exome / Hematologic Diseases / Mutation Type of study: Prognostic_studies Limits: Animals / Child / Child, preschool / Humans / Male Language: En Journal: J Clin Invest Year: 2015 Document type: Article Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Vestibular Diseases / Monomeric GTP-Binding Proteins / MAP Kinase Signaling System / Zebrafish Proteins / Telomere-Binding Proteins / Face / Exome / Hematologic Diseases / Mutation Type of study: Prognostic_studies Limits: Animals / Child / Child, preschool / Humans / Male Language: En Journal: J Clin Invest Year: 2015 Document type: Article Country of publication: United States