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Alexandre Reymond

Showing results (141-150 of 169) with videos related to

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Orphanet Journal of Rare Diseases|June 11, 2011
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Carmela Fusco, et al.
Genome Research|September 8, 2012
GENCODE: the reference human genome annotation for The ENCODE ProjectJennifer Harrow, Adam Frankish, Jose M Gonzalez, et al.
Human Mutation|December 2, 2017
Inactivation of AMMECR1 is associated with growth, bone, and heart alterationsMariana Moysés-Oliveira, Giuliana Giannuzzi, Richard J Fish, et al.
Neuron|November 20, 2018
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical MalformationsRatna Tripathy, Ines Leca, Tessa van Dijk, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 21, 2007
The implications of alternative splicing in the ENCODE protein complementMichael L Tress, Pier Luigi Martelli, Adam Frankish, et al.
Cell|August 2, 2022
A cross-disorder dosage sensitivity map of the human genomeRyan L Collins, Joseph T Glessner, Eleonora Porcu, et al.
Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profilesSissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variantsLucilla Pizzo, Matthew Jensen, Andrew Polyak, et al.
Nucleic Acids Research|October 26, 2018
GENCODE reference annotation for the human and mouse genomesAdam Frankish, Mark Diekhans, Anne-Maud Ferreira, et al.
Genome Medicine|May 29, 2024
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profilesSissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, et al.
Pageof 17

Showing results (141-150 of 169) with videos related to

Sort By:
Pageof 17
Orphanet Journal of Rare Diseases|June 11, 2011
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Carmela Fusco, et al.
Genome Research|September 8, 2012
GENCODE: the reference human genome annotation for The ENCODE ProjectJennifer Harrow, Adam Frankish, Jose M Gonzalez, et al.
Human Mutation|December 2, 2017
Inactivation of AMMECR1 is associated with growth, bone, and heart alterationsMariana Moysés-Oliveira, Giuliana Giannuzzi, Richard J Fish, et al.
Neuron|November 20, 2018
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical MalformationsRatna Tripathy, Ines Leca, Tessa van Dijk, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 21, 2007
The implications of alternative splicing in the ENCODE protein complementMichael L Tress, Pier Luigi Martelli, Adam Frankish, et al.
Cell|August 2, 2022
A cross-disorder dosage sensitivity map of the human genomeRyan L Collins, Joseph T Glessner, Eleonora Porcu, et al.
Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profilesSissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variantsLucilla Pizzo, Matthew Jensen, Andrew Polyak, et al.
Nucleic Acids Research|October 26, 2018
GENCODE reference annotation for the human and mouse genomesAdam Frankish, Mark Diekhans, Anne-Maud Ferreira, et al.
Genome Medicine|May 29, 2024
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profilesSissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, et al.
Pageof 17