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Besnard, Thomas
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1

Purplish granules as a cytological signature of cortical de..:

Le Calvez, Baptiste ; Besnard, Thomas ; Cogne, Benjamin...
American Journal of Hematology.  , 2024
Link: https://doi.org/10.1002/..
 
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2

P428: De novo truncating variants in ZNF865: A putative cau..:

Bradbrook, Sam ; Graham, Gail ; Carter, Melissa...
Genetics in Medicine Open.  2 (2024)  - p. 101322 , 2024
Link: https://doi.org/10.1016/..
 
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3

PSMD11 loss-of-function variants correlate with a neurobeha..:

Deb, Wallid ; Rosenfelt, Cory ; Vignard, Virginie...
The American Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1016/..
 
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4

Stepwise use of genomics and transcriptomics technologies i..:

Colin, Estelle ; Duffourd, Yannis ; Chevarin, Martin...
Frontiers in Cell and Developmental Biology.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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5

SpliceAI-visual: a free online tool to improve SpliceAI spl..:

de Sainte Agathe, Jean-Madeleine ; Filser, Mathilde ; Isidor, Bertrand...
Human Genomics.  17 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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6

Rare germline heterozygous missense variants in BRCA1-assoc..:

Küry, Sébastien ; Ebstein, Frédéric ; Mollé, Alice...
The American Journal of Human Genetics.  109 (2022)  2 - p. 361-372 , 2022
Link: https://doi.org/10.1016/..
 
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7

Loss-of-function variants in SRRM2 cause a neurodevelopment..:

Cuinat, Silvestre ; Nizon, Mathilde ; Isidor, Bertrand...
Genetics in Medicine.  24 (2022)  8 - p. 1774-1780 , 2022
Link: https://doi.org/10.1016/..
 
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8

Rare pathogenic variants in WNK3 cause X-linked intellectua..:

Küry, Sébastien ; Zhang, Jinwei ; Besnard, Thomas...
Genetics in Medicine.  24 (2022)  9 - p. 1941-1951 , 2022
Link: https://doi.org/10.1016/..
 
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9

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
The American Journal of Human Genetics.  109 (2022)  10 - p. 1909-1922 , 2022
Link: https://doi.org/10.1016/..
 
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10

FOSL2 truncating variants in the last exon cause a neurodev..:

Cospain, Auriane ; Rivera-Barahona, Ana ; Dumontet, Erwan...
Genetics in Medicine.  24 (2022)  12 - p. 2475-2486 , 2022
Link: https://doi.org/10.1016/..
 
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11

A Gardos channelopathy associated with nonimmune hydrops an..:

Ghesh, Leïla ; Besnard, Thomas ; Joubert, Madeleine...
Clinical Genetics.  102 (2022)  6 - p. 543-547 , 2022
Link: https://doi.org/10.1111/..
 
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12

Haploinsufficiency of ARFGEF1 is associated with developmen..:

Thomas, Quentin ; Gautier, Thierry ; Marafi, Dana...
Genetics in Medicine.  23 (2021)  10 - p. 1901-1911 , 2021
Link: https://doi.org/10.1038/..
 
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13

Loss‐of‐function variants inARHGEF9are associated with an X..:

Ghesh, Leïla ; Besnard, Thomas ; Nizon, Mathilde...
Human Mutation.  42 (2021)  5 - p. 498-505 , 2021
Link: https://doi.org/10.1002/..
 
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14

Impairment of the mitochondrial one-carbon metabolism enzym..:

García-Cazorla, Àngels ; Verdura, Edgard ; Juliá-Palacios, Natalia...
Acta Neuropathologica.  140 (2020)  6 - p. 971-975 , 2020
Link: https://doi.org/10.1007/..
 
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15

A dominant vimentin variant causes a rare syndrome with pre..:

Cogné, Benjamin ; Bouameur, Jamal-Eddine ; Hayot, Gaëlle...
European Journal of Human Genetics.  28 (2020)  9 - p. 1218-1230 , 2020
Link: https://doi.org/10.1038/..
 
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