NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski-Reference-Cited by-同舟云学术

NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

Published:2011-01 Issue:1 Volume:88 Page:106-114
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Thiel Christian,Kessler Kristin,Giessl Andreas,Dimmler Arno,Shalev Stavit A.,von der Haar Sigrun,Zenker Martin,Zahnleiter Diana,Stöss Hartmut,Beinder Ernst,Abou Jamra Rami,Ekici Arif B.,Schröder-Kreß Nadja,Aigner Thomas,Kirchner Thomas,Reis André,Brandstätter Johann H.,Rauch Anita

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference41 articles.

1. Patched1 regulates hedgehog signaling at the primary cilium;Rohatgi;Science,2007

2. The dynamic cilium in human diseases;D'Angelo;Pathogenetics,2009

3. Overview of structure and function of mammalian cilia;Satir;Annu. Rev. Physiol.,2007

4. Intraflagellar transport;Rosenbaum;Nat. Rev. Mol. Cell Biol.,2002

5. SnapShot: Intraflagellar transport;Cole;Cell,2009

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