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H Zimmerman

Showing results (181-190 of 185) with videos related to

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Brain : a Journal of Neurology|November 1, 2017
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localizationHaicui Wang, Claire G Salter, Osama Refai, et al.
Genome Medicine|November 2, 2016
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile deathMohammad K Eldomery, Zeynep C Akdemir, F-Nora Vögtle, et al.
Human Mutation|June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaSuzanna G M Frints, Friederike Hennig, Roberto Colombo, et al.
Nature Genetics|July 14, 2015
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorderAlexander J Abrams, Robert B Hufnagel, Adriana Rebelo, et al.
Molecular and Cellular Pediatrics|May 19, 2017
Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016Rhea van den Bruck, Patrick P Weil, Thomas Ziegenhals, et al.
Pageof 19

Showing results (181-190 of 185) with videos related to

Sort By:
Pageof 19
You have reached the last page of results.This site can display upto 185 results.
Brain : a Journal of Neurology|November 1, 2017
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localizationHaicui Wang, Claire G Salter, Osama Refai, et al.
Genome Medicine|November 2, 2016
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile deathMohammad K Eldomery, Zeynep C Akdemir, F-Nora Vögtle, et al.
Human Mutation|June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaSuzanna G M Frints, Friederike Hennig, Roberto Colombo, et al.
Nature Genetics|July 14, 2015
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorderAlexander J Abrams, Robert B Hufnagel, Adriana Rebelo, et al.
Molecular and Cellular Pediatrics|May 19, 2017
Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016Rhea van den Bruck, Patrick P Weil, Thomas Ziegenhals, et al.
Pageof 19