Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome-Reference-Cited by-同舟云学术

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

Published:2012-12 Issue:6 Volume:91 Page:998-1010
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Basel-Vanagaite Lina,Dallapiccola Bruno,Ramirez-Solis Ramiro,Segref Alexandra,Thiele Holger,Edwards Andrew,Arends Mark J.,Miró Xavier,White Jacqueline K.,Désir Julie,Abramowicz Marc,Dentici Maria Lisa,Lepri Francesca,Hofmann Kay,Har-Zahav Adi,Ryder Edward,Karp Natasha A.,Estabel Jeanne,Gerdin Anna-Karin B.,Podrini Christine,Ingham Neil J.,Altmüller Janine,Nürnberg Gudrun,Frommolt Peter,Abdelhak Sonia,Pasmanik-Chor Metsada,Konen Osnat,Kelley Richard I.,Shohat Mordechai,Nürnberg Peter,Flint Jonathan,Steel Karen P.,Hoppe Thorsten,Kubisch Christian,Adams David J.,Borck Guntram

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference48 articles.

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