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Showing results (131-140 of 157) with videos related to

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Life Science Alliance|March 13, 2019
<i>PISD</i> is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changesTian Zhao, Caitlin M Goedhart, Pingdewinde N Sam, et al.
European Journal of Human Genetics : EJHG|August 10, 2018
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposisTessa van Dijk, Sacha Ferdinandusse, Jos P N Ruiter, et al.
Gastroenterology|July 5, 2016
Duodenal Bacteria From Patients With Celiac Disease and Healthy Subjects Distinctly Affect Gluten Breakdown and ImmunogenicityAlberto Caminero, Heather J Galipeau, Justin L McCarville, et al.
American Journal of Human Genetics|January 5, 2024
An interactive atlas of three-dimensional syndromic facial morphologyJ David Aponte, Jordan J Bannister, Hanne Hoskens, et al.
Pharmacoeconomics|April 7, 2023
Developing a Framework of Cost Elements of Socioeconomic Burden of Rare Disease: A Scoping ReviewGillian R Currie, Brittany Gerber, Diane Lorenzetti, et al.
Pediatric Rheumatology Online Journal|September 2, 2025
A roadmap for navigating child health research data sharing across Canada and beyond - building on UCAN CAN-DUBrittany Gerber, Gillian R Currie, Alexander Mosoiu, et al.
European Journal of Human Genetics : EJHG|March 24, 2016
Expansion of phenotype and genotypic data in CRB2-related syndromeRyan E Lamont, Wen-Hann Tan, A Micheil Innes, et al.
American Journal of Human Genetics|August 9, 2014
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophyKimberly A Aldinger, Stephen J Mosca, Martine Tétreault, et al.
Nature Communications|July 23, 2014
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndromeDanielle C Lynch, Timothée Revil, Jeremy Schwartzentruber, et al.
American Journal of Medical Genetics. Part A|November 10, 2023
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approachLeanne de Kock, Alexanne Cuillerier, Meredith Gillespie, et al.
Pageof 16

Showing results (131-140 of 157) with videos related to

Sort By:
Pageof 16
Life Science Alliance|March 13, 2019
<i>PISD</i> is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changesTian Zhao, Caitlin M Goedhart, Pingdewinde N Sam, et al.
European Journal of Human Genetics : EJHG|August 10, 2018
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposisTessa van Dijk, Sacha Ferdinandusse, Jos P N Ruiter, et al.
Gastroenterology|July 5, 2016
Duodenal Bacteria From Patients With Celiac Disease and Healthy Subjects Distinctly Affect Gluten Breakdown and ImmunogenicityAlberto Caminero, Heather J Galipeau, Justin L McCarville, et al.
American Journal of Human Genetics|January 5, 2024
An interactive atlas of three-dimensional syndromic facial morphologyJ David Aponte, Jordan J Bannister, Hanne Hoskens, et al.
Pharmacoeconomics|April 7, 2023
Developing a Framework of Cost Elements of Socioeconomic Burden of Rare Disease: A Scoping ReviewGillian R Currie, Brittany Gerber, Diane Lorenzetti, et al.
Pediatric Rheumatology Online Journal|September 2, 2025
A roadmap for navigating child health research data sharing across Canada and beyond - building on UCAN CAN-DUBrittany Gerber, Gillian R Currie, Alexander Mosoiu, et al.
European Journal of Human Genetics : EJHG|March 24, 2016
Expansion of phenotype and genotypic data in CRB2-related syndromeRyan E Lamont, Wen-Hann Tan, A Micheil Innes, et al.
American Journal of Human Genetics|August 9, 2014
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophyKimberly A Aldinger, Stephen J Mosca, Martine Tétreault, et al.
Nature Communications|July 23, 2014
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndromeDanielle C Lynch, Timothée Revil, Jeremy Schwartzentruber, et al.
American Journal of Medical Genetics. Part A|November 10, 2023
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approachLeanne de Kock, Alexanne Cuillerier, Meredith Gillespie, et al.
Pageof 16