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Brain : a Journal of Neurology
|
November 1, 2017
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
Haicui 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 death
Mohammad 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 congenita
Suzanna 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 disorder
Alexander 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 2016
Rhea van den Bruck, Patrick P Weil, Thomas Ziegenhals, et al.
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of 19
Search research articles
Search
Showing results (181-190 of 185) with videos related to
Sort By:
Page
of 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 localization
Haicui 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 death
Mohammad 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 congenita
Suzanna 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 disorder
Alexander 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 2016
Rhea van den Bruck, Patrick P Weil, Thomas Ziegenhals, et al.
Page
of 19