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Stanislas Lyonnet

Showing results (191-200 of 260) with videos related to

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Human Mutation|August 7, 2010
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathySophie Thomas, Ferechté Encha-Razavi, Louise Devisme, et al.
American Journal of Human Genetics|November 14, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Human Genetics|November 2, 2013
C5orf42 is the major gene responsible for OFD syndrome type VIEstelle Lopez, Christel Thauvin-Robinet, Bruno Reversade, et al.
Nature Communications|March 14, 2019
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactylyNajim Lahrouchi, Aman George, Ilham Ratbi, et al.
Journal of Medical Genetics|October 2, 2012
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutationsMarine Legendre, Marie Gonzales, Géraldine Goudefroye, et al.
American Journal of Medical Genetics. Part A|October 5, 2022
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndromeGuillaume Jouret, Matthieu Egloff, Emilie Landais, et al.
Molecular Genetics & Genomic Medicine|January 28, 2020
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterizationKévin Uguen, Claire Jubin, Yannis Duffourd, et al.
Journal of Medical Genetics|March 19, 2011
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasiaSlimane Allali, Carine Le Goff, Isabelle Pressac-Diebold, et al.
Human Mutation|April 3, 2007
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. OnlineRana Khaddour, Ursula Smith, Lekbir Baala, et al.
American Journal of Human Genetics|April 26, 2016
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie SyndromeSylvie Gerber, Kamil J Alzayady, Lydie Burglen, et al.
Pageof 26

Showing results (191-200 of 260) with videos related to

Sort By:
Pageof 26
Human Mutation|August 7, 2010
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathySophie Thomas, Ferechté Encha-Razavi, Louise Devisme, et al.
American Journal of Human Genetics|November 14, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Human Genetics|November 2, 2013
C5orf42 is the major gene responsible for OFD syndrome type VIEstelle Lopez, Christel Thauvin-Robinet, Bruno Reversade, et al.
Nature Communications|March 14, 2019
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactylyNajim Lahrouchi, Aman George, Ilham Ratbi, et al.
Journal of Medical Genetics|October 2, 2012
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutationsMarine Legendre, Marie Gonzales, Géraldine Goudefroye, et al.
American Journal of Medical Genetics. Part A|October 5, 2022
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndromeGuillaume Jouret, Matthieu Egloff, Emilie Landais, et al.
Molecular Genetics & Genomic Medicine|January 28, 2020
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterizationKévin Uguen, Claire Jubin, Yannis Duffourd, et al.
Journal of Medical Genetics|March 19, 2011
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasiaSlimane Allali, Carine Le Goff, Isabelle Pressac-Diebold, et al.
Human Mutation|April 3, 2007
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. OnlineRana Khaddour, Ursula Smith, Lekbir Baala, et al.
American Journal of Human Genetics|April 26, 2016
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie SyndromeSylvie Gerber, Kamil J Alzayady, Lydie Burglen, et al.
Pageof 26