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Nucleic Acids Research
|
November 19, 2011
eggNOG v3.0: orthologous groups covering 1133 organisms at 41 different taxonomic ranges
Sean Powell, Damian Szklarczyk, Kalliopi Trachana, et al.
American Journal of Human Genetics
|
December 14, 2011
Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects
Agnès Bloch-Zupan, Xavier Jamet, Christelle Etard, et al.
Human Molecular Genetics
|
July 23, 2015
Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family
Ozlem Okutman, Jean Muller, Yoni Baert, et al.
Frontiers in Physiology
|
October 16, 2018
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
Virginie Laugel-Haushalter, Supawich Morkmued, Corinne Stoetzel, et al.
European Journal of Human Genetics : EJHG
|
December 17, 2015
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)
Claire Guissart, Nathalie Drouot, Ibrahim Oncel, et al.
Journal of Assisted Reproduction and Genetics
|
February 5, 2026
Disruption of meiotic double-strand break dynamics provokes germline human infertility in both sexes
Ozlem Okutman, Asma Sassi, Ahmet Salvarci, et al.
Nucleic Acids Research
|
May 30, 2012
KD4v: Comprehensible Knowledge Discovery System for Missense Variant
Tien-Dao Luu, Alin Rusu, Vincent Walter, et al.
Human Mutation
|
November 19, 2009
SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases
Anne Friedrich, Nicolas Garnier, Nicolas Gagnière, et al.
Journal of Medical Genetics
|
September 13, 2013
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
Sophie Scheidecker, Christelle Etard, Nathan W Pierce, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
March 7, 2019
Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement
Tristan Rey, Julien Tarabeux, Bénédicte Gerard, et al.
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of 11
Search research articles
Search
Showing results (41-50 of 103) with videos related to
Sort By:
Page
of 11
Nucleic Acids Research
|
November 19, 2011
eggNOG v3.0: orthologous groups covering 1133 organisms at 41 different taxonomic ranges
Sean Powell, Damian Szklarczyk, Kalliopi Trachana, et al.
American Journal of Human Genetics
|
December 14, 2011
Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects
Agnès Bloch-Zupan, Xavier Jamet, Christelle Etard, et al.
Human Molecular Genetics
|
July 23, 2015
Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family
Ozlem Okutman, Jean Muller, Yoni Baert, et al.
Frontiers in Physiology
|
October 16, 2018
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
Virginie Laugel-Haushalter, Supawich Morkmued, Corinne Stoetzel, et al.
European Journal of Human Genetics : EJHG
|
December 17, 2015
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)
Claire Guissart, Nathalie Drouot, Ibrahim Oncel, et al.
Journal of Assisted Reproduction and Genetics
|
February 5, 2026
Disruption of meiotic double-strand break dynamics provokes germline human infertility in both sexes
Ozlem Okutman, Asma Sassi, Ahmet Salvarci, et al.
Nucleic Acids Research
|
May 30, 2012
KD4v: Comprehensible Knowledge Discovery System for Missense Variant
Tien-Dao Luu, Alin Rusu, Vincent Walter, et al.
Human Mutation
|
November 19, 2009
SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases
Anne Friedrich, Nicolas Garnier, Nicolas Gagnière, et al.
Journal of Medical Genetics
|
September 13, 2013
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
Sophie Scheidecker, Christelle Etard, Nathan W Pierce, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
March 7, 2019
Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement
Tristan Rey, Julien Tarabeux, Bénédicte Gerard, et al.
Page
of 11