Crowdfunding Effort Identifies the Causative Mutation in a Patient with Nystagmus, Microcephaly, Dystonia and Hypomyelination-Reference-Cited by-同舟云学术

Crowdfunding Effort Identifies the Causative Mutation in a Patient with Nystagmus, Microcephaly, Dystonia and Hypomyelination

Published:2015-02 Issue:2 Volume:42 Page:79-81
ISSN:1673-8527
Container-title:Journal of Genetics and Genomics
language:en
Short-container-title:Journal of Genetics and Genomics

Author:

Isakov Ofer,Lev Dorit,Blumkin Lubov,Celniker Gershon,Leshinsky-Silver Esther,Shomron Noam

Funder

Edmond J. Safra Center for Bioinformatics at Tel-Aviv University

Publisher

Elsevier BV

Subject

Genetics,Molecular Biology

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3. Crowdfunding genomics and bioinformatics;Cameron;Genome Biol.,2013

4. Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC);Ferreira;Am. J. Med. Genet. A,2014

5. Unlocking Mendelian disease using exome sequencing;Gilissen;Genome Biol.,2011

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