Mutations inTMEM231cause Joubert syndrome in French Canadians-Reference-Cited by-同舟云学术

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Mutations inTMEM231cause Joubert syndrome in French Canadians

Published:2012-09-25 Issue:10 Volume:49 Page:636-641
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Srour Myriam,Hamdan Fadi F,Schwartzentruber Jeremy A,Patry Lysanne,Ospina Luis H,Shevell Michael I,Désilets Valérie,Dobrzeniecka Sylvia,Mathonnet Géraldine,Lemyre Emmanuelle,Massicotte Christine,Labuda Damian,Amrom Dina,Andermann Eva,Sébire Guillaume,Maranda Bruno,Consortium FORGE Canada,Rouleau Guy A,Majewski Jacek,Michaud Jacques L

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Cited by 68 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome;Genetics in Medicine;2023-12

2. Identification of novel TMEM231 gene splice variants and pathological findings in a fetus with Meckel Syndrome;Frontiers in Genetics;2023-09-06

3. A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases;Genes;2023-08-03

4. An Overview of Genes Involved in the Pure Joubert Syndrome and in Joubert Syndrome-Related Disorders (JSRD);Journal of Pediatric Neurology;2023-01-05

5. Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery;The American Journal of Human Genetics;2022-11

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