Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome-Reference-Cited by-同舟云学术

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

Published:2017-02 Issue:2 Volume:100 Page:281-296
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Oud Machteld M.,Tuijnenburg Paul,Hempel Maja,van Vlies Naomi,Ren Zemin,Ferdinandusse Sacha,Jansen Machiel H.,Santer René,Johannsen Jessika,Bacchelli Chiara,Alders Marielle,Li Rui,Davies Rosalind,Dupuis Lucie,Cale Catherine M.,Wanders Ronald J.A.,Pals Steven T.,Ocaka Louise,James Chela,Müller Ingo,Lehmberg Kai,Strom Tim,Engels Hartmut,Williams Hywel J.,Beales Phil,Roepman Ronald,Dias Patricia,Brunner Han G.,Cobben Jan-Maarten,Hall Christine,Hartley Taila,Le Quesne Stabej Polona,Mendoza-Londono Roberto,Davies E. Graham,de Sousa Sérgio B.,Lessel Davor,Arts Heleen H.,Kuijpers Taco W.

Funder

Dutch Kidney Foundation

Netherlands Organization for Health Research and Development

Netherlands Organization for Scientific Research

Center of Immunodeficiencies Amsterdam, and Fundação para a Ciência e Tecnologia

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference50 articles.

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2. Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015;Picard;J. Clin. Immunol.,2015