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Stephan Züchner

Showing results (141-150 of 198) with videos related to

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Brain : a Journal of Neurology|April 23, 2021
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxiaAdriana P Rebelo, Ilse Eidhof, Vivian P Cintra, et al.
Metallomics : Integrated Biometal Science|June 14, 2016
Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX)Gonzalo Perez-Siles, Adrienne Grant, Melina Ellis, et al.
American Journal of Human Genetics|January 22, 2013
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegiaElodie Martin, Rebecca Schüle, Katrien Smets, et al.
Journal of Neurology|June 24, 2015
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1Alleene V Strickland, Maria Schabhüttl, Hans Offenbacher, et al.
Neurobiology of Aging|October 31, 2012
Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in CaucasiansMartin A Kohli, Krista John-Williams, Ruchita Rajbhandary, et al.
Annals of Neurology|August 29, 2014
Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathyAndreas S Beutler, Amit A Kulkarni, Rahul Kanwar, et al.
Journal of Clinical Lipidology|August 31, 2018
MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissueEmilie Capel, Camille Vatier, Pascale Cervera, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2021
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed casesShilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.
American Journal of Human Genetics|February 8, 2011
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosaStephan Züchner, Julia Dallman, Rong Wen, et al.
American Journal of Human Genetics|November 12, 2013
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominanceCharlotte J Sumner, Constantin d'Ydewalle, Joe Wooley, et al.
Pageof 20

Showing results (141-150 of 198) with videos related to

Sort By:
Pageof 20
Brain : a Journal of Neurology|April 23, 2021
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxiaAdriana P Rebelo, Ilse Eidhof, Vivian P Cintra, et al.
Metallomics : Integrated Biometal Science|June 14, 2016
Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX)Gonzalo Perez-Siles, Adrienne Grant, Melina Ellis, et al.
American Journal of Human Genetics|January 22, 2013
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegiaElodie Martin, Rebecca Schüle, Katrien Smets, et al.
Journal of Neurology|June 24, 2015
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1Alleene V Strickland, Maria Schabhüttl, Hans Offenbacher, et al.
Neurobiology of Aging|October 31, 2012
Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in CaucasiansMartin A Kohli, Krista John-Williams, Ruchita Rajbhandary, et al.
Annals of Neurology|August 29, 2014
Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathyAndreas S Beutler, Amit A Kulkarni, Rahul Kanwar, et al.
Journal of Clinical Lipidology|August 31, 2018
MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissueEmilie Capel, Camille Vatier, Pascale Cervera, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2021
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed casesShilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.
American Journal of Human Genetics|February 8, 2011
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosaStephan Züchner, Julia Dallman, Rong Wen, et al.
American Journal of Human Genetics|November 12, 2013
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominanceCharlotte J Sumner, Constantin d'Ydewalle, Joe Wooley, et al.
Pageof 20