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Beryl Royer-Bertrand

Showing results (1-10 of 19) with videos related to

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Cellular and Molecular Life Sciences : CMLS|December 31, 2014
Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancerBeryl Royer-Bertrand, Carlo Rivolta
American Journal of Human Genetics|October 7, 2017
DOMINO: Using Machine Learning to Predict Genes Associated with Dominant DisordersMathieu Quinodoz, Beryl Royer-Bertrand, Katarina Cisarova, et al.
Genes|September 28, 2021
CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and LimitationsBeryl Royer-Bertrand, Katarina Cisarova, Florence Niel-Butschi, et al.
BMC Genomics|November 24, 2014
Functional chromatin features are associated with structural mutations in cancerKrzysztof R Grzeda, Beryl Royer-Bertrand, Koichiro Inaki, et al.
American Journal of Human Genetics|February 5, 2022
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicityMathieu Quinodoz, Virginie G Peter, Katarina Cisarova, et al.
BMC Neurology|January 15, 2020
Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literatureFilipa Bastos, Mathieu Quinodoz, Marie-Claude Addor, et al.
Plos Genetics|December 31, 2020
Genomic and transcriptomic landscape of conjunctival melanomaKatarina Cisarova, Marc Folcher, Ikram El Zaoui, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|March 7, 2016
Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's DiseaseLuisa Bonafé, Ariana Kariminejad, Jia Li, et al.
Bone|November 19, 2018
Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypesEliza Thompson, Ebtesam Abdalla, Andrea Superti-Furga, et al.
Scientific Reports|November 25, 2015
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasiaBeryl Royer-Bertrand, Silvia Castillo-Taucher, Rodrigo Moreno-Salinas, et al.
Pageof 2

Showing results (1-10 of 19) with videos related to

Sort By:
Pageof 2
Cellular and Molecular Life Sciences : CMLS|December 31, 2014
Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancerBeryl Royer-Bertrand, Carlo Rivolta
American Journal of Human Genetics|October 7, 2017
DOMINO: Using Machine Learning to Predict Genes Associated with Dominant DisordersMathieu Quinodoz, Beryl Royer-Bertrand, Katarina Cisarova, et al.
Genes|September 28, 2021
CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and LimitationsBeryl Royer-Bertrand, Katarina Cisarova, Florence Niel-Butschi, et al.
BMC Genomics|November 24, 2014
Functional chromatin features are associated with structural mutations in cancerKrzysztof R Grzeda, Beryl Royer-Bertrand, Koichiro Inaki, et al.
American Journal of Human Genetics|February 5, 2022
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicityMathieu Quinodoz, Virginie G Peter, Katarina Cisarova, et al.
BMC Neurology|January 15, 2020
Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literatureFilipa Bastos, Mathieu Quinodoz, Marie-Claude Addor, et al.
Plos Genetics|December 31, 2020
Genomic and transcriptomic landscape of conjunctival melanomaKatarina Cisarova, Marc Folcher, Ikram El Zaoui, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|March 7, 2016
Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's DiseaseLuisa Bonafé, Ariana Kariminejad, Jia Li, et al.
Bone|November 19, 2018
Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypesEliza Thompson, Ebtesam Abdalla, Andrea Superti-Furga, et al.
Scientific Reports|November 25, 2015
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasiaBeryl Royer-Bertrand, Silvia Castillo-Taucher, Rodrigo Moreno-Salinas, et al.
Pageof 2