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Beryl Royer-Bertrand

Showing results (11-20 of 19) with videos related to

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American Journal of Human Genetics|October 18, 2016
Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome SequencingBeryl Royer-Bertrand, Matteo Torsello, Donata Rimoldi, et al.
American Journal of Medical Genetics. Part A|August 20, 2015
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retinaNuria Garcia Segarra, Diana Ballhausen, Heather Crawford, et al.
Molecular Autism|October 27, 2021
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizuresBeryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, et al.
American Journal of Human Genetics|September 3, 2016
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia DefectsKonstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco, et al.
JCI Insight|August 1, 2024
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variantsFlorence Fellmann, Carol Saunders, Marie-Françoise O'Donohue, et al.
Nature|February 11, 2021
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulatorLila Allou, Sara Balzano, Andreas Magg, et al.
Human Molecular Genetics|February 8, 2017
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertilityNicola Bedoni, Lonneke Haer-Wigman, Veronika Vaclavik, et al.
The Journal of Experimental Medicine|February 3, 2017
<i>EXTL3</i> mutations cause skeletal dysplasia, immune deficiency, and developmental delayStefano Volpi, Yasuhiro Yamazaki, Patrick M Brauer, et al.
Nature Genetics|May 24, 2016
NANS-mediated synthesis of sialic acid is required for brain and skeletal developmentClara D M van Karnebeek, Luisa Bonafé, Xiao-Yan Wen, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
American Journal of Human Genetics|October 18, 2016
Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome SequencingBeryl Royer-Bertrand, Matteo Torsello, Donata Rimoldi, et al.
American Journal of Medical Genetics. Part A|August 20, 2015
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retinaNuria Garcia Segarra, Diana Ballhausen, Heather Crawford, et al.
Molecular Autism|October 27, 2021
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizuresBeryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, et al.
American Journal of Human Genetics|September 3, 2016
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia DefectsKonstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco, et al.
JCI Insight|August 1, 2024
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variantsFlorence Fellmann, Carol Saunders, Marie-Françoise O'Donohue, et al.
Nature|February 11, 2021
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulatorLila Allou, Sara Balzano, Andreas Magg, et al.
Human Molecular Genetics|February 8, 2017
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertilityNicola Bedoni, Lonneke Haer-Wigman, Veronika Vaclavik, et al.
The Journal of Experimental Medicine|February 3, 2017
<i>EXTL3</i> mutations cause skeletal dysplasia, immune deficiency, and developmental delayStefano Volpi, Yasuhiro Yamazaki, Patrick M Brauer, et al.
Nature Genetics|May 24, 2016
NANS-mediated synthesis of sialic acid is required for brain and skeletal developmentClara D M van Karnebeek, Luisa Bonafé, Xiao-Yan Wen, et al.
Pageof 2