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Clinical Genetics
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August 28, 2022
A Gardos channelopathy associated with nonimmune hydrops and fetal loss
Leïla Ghesh, Thomas Besnard, Madeleine Joubert, et al.
American Journal of Hematology
|
April 17, 2024
Purplish granules as a cytological signature of cortical developmental disorders caused by pathogenic variants in WDR81
Baptiste Le Calvez, Thomas Besnard, Benjamin Cogne, et al.
European Journal of Human Genetics : EJHG
|
October 8, 2015
CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP)
Sébastien Küry, Sandra Mercier, Gasnat Shaboodien, et al.
Molecular Vision
|
February 27, 2013
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort
Gema García-García, Thomas Besnard, David Baux, et al.
Clinical Genetics
|
November 10, 2024
Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome
Antoine Civit, Nathalie Ronce, Benjamin Cogné, et al.
British Journal of Haematology
|
November 24, 2016
A new mutation of ANO6 in two familial cases of Scott syndrome
Pierre Boisseau, Marie C Bene, Thomas Besnard, et al.
Human Mutation
|
June 1, 2010
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome
Christel Vaché, Thomas Besnard, Catherine Blanchet, et al.
Clinical Genetics
|
February 20, 2026
WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy
Lama Alabdi, Benjamin Cogne, Ali S Almasood, et al.
Molecular Genetics & Genomic Medicine
|
February 6, 2014
Experience of targeted Usher exome sequencing as a clinical test
Thomas Besnard, Gema García-García, David Baux, et al.
Neurogenetics
|
January 8, 2026
Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum
Silvestre Cuinat, Tiphaine Rouaud, Thomas Besnard, et al.
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of 8
Search research articles
Search
Showing results (1-10 of 72) with videos related to
Sort By:
Page
of 8
Clinical Genetics
|
August 28, 2022
A Gardos channelopathy associated with nonimmune hydrops and fetal loss
Leïla Ghesh, Thomas Besnard, Madeleine Joubert, et al.
American Journal of Hematology
|
April 17, 2024
Purplish granules as a cytological signature of cortical developmental disorders caused by pathogenic variants in WDR81
Baptiste Le Calvez, Thomas Besnard, Benjamin Cogne, et al.
European Journal of Human Genetics : EJHG
|
October 8, 2015
CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP)
Sébastien Küry, Sandra Mercier, Gasnat Shaboodien, et al.
Molecular Vision
|
February 27, 2013
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort
Gema García-García, Thomas Besnard, David Baux, et al.
Clinical Genetics
|
November 10, 2024
Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome
Antoine Civit, Nathalie Ronce, Benjamin Cogné, et al.
British Journal of Haematology
|
November 24, 2016
A new mutation of ANO6 in two familial cases of Scott syndrome
Pierre Boisseau, Marie C Bene, Thomas Besnard, et al.
Human Mutation
|
June 1, 2010
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome
Christel Vaché, Thomas Besnard, Catherine Blanchet, et al.
Clinical Genetics
|
February 20, 2026
WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy
Lama Alabdi, Benjamin Cogne, Ali S Almasood, et al.
Molecular Genetics & Genomic Medicine
|
February 6, 2014
Experience of targeted Usher exome sequencing as a clinical test
Thomas Besnard, Gema García-García, David Baux, et al.
Neurogenetics
|
January 8, 2026
Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum
Silvestre Cuinat, Tiphaine Rouaud, Thomas Besnard, et al.
Page
of 8