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Showing results (101-110 of 157) with videos related to

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American Journal of Medical Genetics. Part A|September 24, 2018
Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disordersAlison Eaton, Francois P Bernier, Caitlin Goedhart, et al.
Journal of Human Nutrition and Dietetics : the Official Journal of the British Dietetic Association|October 24, 2013
Providing quality nutrition care in acute care hospitals: perspectives of nutrition care personnelH H Keller, E Vesnaver, B Davidson, et al.
Clinical Genetics|September 30, 2016
Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrumC Smith, J S Parboosingh, K M Boycott, et al.
Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'Obstetrique Et Gynecologie Du Canada : JOGC|November 27, 2018
Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac AnomaliesRyan E Lamont, Yanwei Xi, Claire Popko, et al.
Journal of Medical Genetics|August 2, 2005
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like conditionK M Davey, J S Parboosingh, D R McLeod, et al.
European Journal of Clinical Nutrition|December 18, 2014
Validity and reliability of the new Canadian Nutrition Screening Tool in the 'real-world' hospital settingM Laporte, H H Keller, H Payette, et al.
American Journal of Medical Genetics. Part A|September 28, 2016
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite populationRyan E Lamont, Chandree L Beaulieu, Francois P Bernier, et al.
American Journal of Medical Genetics. Part A|April 4, 2017
Response to correspondence of NDUFS4-related Leigh syndrome in HutteritesRyan E Lamont, Chandree L Beaulieu, Francois P Bernier, et al.
European Journal of Human Genetics : EJHG|February 7, 2023
Comparing 2D and 3D representations for face-based genetic syndrome diagnosisJordan J Bannister, Matthias Wilms, J David Aponte, et al.
Neurogenetics|February 8, 2026
Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritanceEmma H Gillesse, Miranda Wan, Setareh Ashtiani, et al.
Pageof 16

Showing results (101-110 of 157) with videos related to

Sort By:
Pageof 16
American Journal of Medical Genetics. Part A|September 24, 2018
Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disordersAlison Eaton, Francois P Bernier, Caitlin Goedhart, et al.
Journal of Human Nutrition and Dietetics : the Official Journal of the British Dietetic Association|October 24, 2013
Providing quality nutrition care in acute care hospitals: perspectives of nutrition care personnelH H Keller, E Vesnaver, B Davidson, et al.
Clinical Genetics|September 30, 2016
Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrumC Smith, J S Parboosingh, K M Boycott, et al.
Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'Obstetrique Et Gynecologie Du Canada : JOGC|November 27, 2018
Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac AnomaliesRyan E Lamont, Yanwei Xi, Claire Popko, et al.
Journal of Medical Genetics|August 2, 2005
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like conditionK M Davey, J S Parboosingh, D R McLeod, et al.
European Journal of Clinical Nutrition|December 18, 2014
Validity and reliability of the new Canadian Nutrition Screening Tool in the 'real-world' hospital settingM Laporte, H H Keller, H Payette, et al.
American Journal of Medical Genetics. Part A|September 28, 2016
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite populationRyan E Lamont, Chandree L Beaulieu, Francois P Bernier, et al.
American Journal of Medical Genetics. Part A|April 4, 2017
Response to correspondence of NDUFS4-related Leigh syndrome in HutteritesRyan E Lamont, Chandree L Beaulieu, Francois P Bernier, et al.
European Journal of Human Genetics : EJHG|February 7, 2023
Comparing 2D and 3D representations for face-based genetic syndrome diagnosisJordan J Bannister, Matthias Wilms, J David Aponte, et al.
Neurogenetics|February 8, 2026
Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritanceEmma H Gillesse, Miranda Wan, Setareh Ashtiani, et al.
Pageof 16