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Pedro Mancias

Showing results (21-30 of 26) with videos related to

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Neurology. Genetics|May 12, 2021
Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital MyopathyDaniel G Calame, Jawid Fatih, Isabella Herman, et al.
Annals of Neurology|February 9, 2002
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlationCornelius F Boerkoel, Hiroshi Takashima, Carlos A Garcia, et al.
The Journal of Clinical Investigation|September 27, 2019
Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse modelsKathryn H Morelli, Laurie B Griffin, Nettie K Pyne, et al.
Cell Reports|August 11, 2015
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyClaudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, et al.
Brain : a Journal of Neurology|May 23, 2006
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2Kristien Verhoeven, Kristl G Claeys, Stephan Züchner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 familiesMichael D Fountain, Emmelien Aten, Megan T Cho, et al.
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Showing results (21-30 of 26) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 26 results.
Neurology. Genetics|May 12, 2021
Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital MyopathyDaniel G Calame, Jawid Fatih, Isabella Herman, et al.
Annals of Neurology|February 9, 2002
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlationCornelius F Boerkoel, Hiroshi Takashima, Carlos A Garcia, et al.
The Journal of Clinical Investigation|September 27, 2019
Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse modelsKathryn H Morelli, Laurie B Griffin, Nettie K Pyne, et al.
Cell Reports|August 11, 2015
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyClaudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, et al.
Brain : a Journal of Neurology|May 23, 2006
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2Kristien Verhoeven, Kristl G Claeys, Stephan Züchner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 familiesMichael D Fountain, Emmelien Aten, Megan T Cho, et al.
Pageof 3