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Showing results (141-150 of 157) with videos related to

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Nature Communications|March 15, 2019
Duodenal bacterial proteolytic activity determines sensitivity to dietary antigen through protease-activated receptor-2Alberto Caminero, Justin L McCarville, Heather J Galipeau, et al.
Human Molecular Genetics|August 7, 2001
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1FK N Alagramam, H Yuan, M H Kuehn, et al.
Human Molecular Genetics|October 19, 2020
De novo variants in MPP5 cause global developmental delay and behavioral changesNoelle Sterling, Anna R Duncan, Raehee Park, et al.
Maternal & Child Nutrition|July 19, 2012
The Alberta Pregnancy Outcomes and Nutrition (APrON) cohort study: rationale and methodsBonnie J Kaplan, Gerald F Giesbrecht, Brenda M Y Leung, et al.
American Journal of Human Genetics|June 7, 2014
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery projectChandree L Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, et al.
American Journal of Human Genetics|May 1, 2012
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeFrancois P Bernier, Oana Caluseriu, Sarah Ng, et al.
Molecular Cytogenetics|November 13, 2008
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGHChristine Tyson, Ying Qiao, Chansonette Harvard, et al.
Clinical Genetics|February 8, 2017
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencingT B Balci, T Hartley, Y Xi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 16, 2023
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathyVandana Shashi, Kelly Schoch, Rebecca Ganetzky, et al.
American Journal of Human Genetics|July 9, 2013
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disabilityNina Bögershausen, Nassim Shahrzad, Jessica X Chong, et al.
Pageof 16

Showing results (141-150 of 157) with videos related to

Sort By:
Pageof 16
Nature Communications|March 15, 2019
Duodenal bacterial proteolytic activity determines sensitivity to dietary antigen through protease-activated receptor-2Alberto Caminero, Justin L McCarville, Heather J Galipeau, et al.
Human Molecular Genetics|August 7, 2001
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1FK N Alagramam, H Yuan, M H Kuehn, et al.
Human Molecular Genetics|October 19, 2020
De novo variants in MPP5 cause global developmental delay and behavioral changesNoelle Sterling, Anna R Duncan, Raehee Park, et al.
Maternal & Child Nutrition|July 19, 2012
The Alberta Pregnancy Outcomes and Nutrition (APrON) cohort study: rationale and methodsBonnie J Kaplan, Gerald F Giesbrecht, Brenda M Y Leung, et al.
American Journal of Human Genetics|June 7, 2014
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery projectChandree L Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, et al.
American Journal of Human Genetics|May 1, 2012
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeFrancois P Bernier, Oana Caluseriu, Sarah Ng, et al.
Molecular Cytogenetics|November 13, 2008
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGHChristine Tyson, Ying Qiao, Chansonette Harvard, et al.
Clinical Genetics|February 8, 2017
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencingT B Balci, T Hartley, Y Xi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 16, 2023
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathyVandana Shashi, Kelly Schoch, Rebecca Ganetzky, et al.
American Journal of Human Genetics|July 9, 2013
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disabilityNina Bögershausen, Nassim Shahrzad, Jessica X Chong, et al.
Pageof 16