MKS1 regulates ciliary INPP5E levels in Joubert syndrome-Reference-Cited by-同舟云学术

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Published:2015-10-21 Issue:1 Volume:53 Page:62-72
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Slaats Gisela G,Isabella Christine R,Kroes Hester Y,Dempsey Jennifer C,Gremmels Hendrik,Monroe Glen R,Phelps Ian G,Duran Karen J,Adkins Jonathan,Kumar Sairam A,Knutzen Dana M,Knoers Nine V,Mendelsohn Nancy J,Neubauer David,Mastroyianni Sotiria D,Vogt Julie,Worgan Lisa,Karp Natalya,Bowdin Sarah,Glass Ian A,Parisi Melissa A,Otto Edgar A,Johnson Colin A,Hildebrandt Friedhelm,van Haaften Gijs,Giles Rachel H,Doherty Dan

Publisher

BMJ

Subject

Genetics (clinical),Genetics

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4. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation;Joubert;. Neurology,1969

5. Follow-Up in Children with Joubert Syndrome;Steinlin;Neuropediatr,1997

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