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Cantagrel, Vincent
132  results:
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1

A pseudoautosomal glycosylation disorder prompts the revisi..:

Wilson, Matthew P. ; Kentache, Takfarinas ; Althoff, Charlotte R....
Cell.  187 (2024)  14 - p. 3585-3601.e22 , 2024
Link: https://doi.org/10.1016/..
 
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2

De novo variants in DENND5B cause a neurodevelopmental diso..:

Scala, Marcello ; Tomati, Valeria ; Ferla, Matteo...
The American Journal of Human Genetics.  111 (2024)  3 - p. 529-543 , 2024
Link: https://doi.org/10.1016/..
 
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3

A pseudoautosomal glycosylation disorder prompts the revisi..:

Wilson, Matthew P. ; Kentache, Takfarinas ; Althoff, Charlotte R....
Cell.  187 (2024)  14 - p. 3784 , 2024
Link: https://doi.org/10.1016/..
 
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4

A non-coding variant in the Kozak sequence of RARS2 strongl..:

Nicolle, Romain ; Altin, Nami ; Siquier-Pernet, Karine...
BMC Medical Genomics.  16 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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5

Supernumerary chromosome 6 marker associated with paternal ..:

Lesieur-Sebellin, Marion ; Marzin, Pauline ; Arnoux, Jean-Baptiste...
European Journal of Medical Genetics.  66 (2023)  10 - p. 104848 , 2023
Link: https://doi.org/10.1016/..
 
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6

Association d'un marqueur surnuméraire et d'une isodisomie ..:

Lesieur-Sebellin, Marion ; Marzin, Pauline ; Arnoux, Jean-Baptiste...
Morphologie.  107 (2023)  359 - p. 100635 , 2023
Link: https://doi.org/10.1016/..
 
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7

Suleiman-El-Hattab syndrome: a histone modification disorde..:

Riedhammer, Korbinian M ; Burgemeister, Anna L ; Cantagrel, Vincent...
Human Molecular Genetics.  31 (2022)  18 - p. 3083-3094 , 2022
Link: https://doi.org/10.1093/..
 
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8

Biallelic loss of EMC10 leads to mild to severe intellectua..:

Kaiyrzhanov, Rauan ; Rocca, Clarissa ; Suri, Mohnish...
Annals of Clinical and Translational Neurology.  9 (2022)  7 - p. 1080-1089 , 2022
Link: https://doi.org/10.1002/..
 
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9

16p13.11p11.2 triplication syndrome: a new recognizable gen..:

Nicolle, Romain ; Siquier-Pernet, Karine ; Rio, Marlène...
European Journal of Human Genetics.  30 (2022)  6 - p. 712-720 , 2022
Link: https://doi.org/10.1038/..
 
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10

Loss of function mutations in GEMIN5 cause a neurodevelopme..:

Kour, Sukhleen ; Rajan, Deepa S. ; Fortuna, Tyler R....
Nature Communications.  12 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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11

Emm : un nouveau système de groupe sanguin associé à des tr..:

Duval, Romain ; Nicolas, Gael ; Willemetz, Alexandra...
Transfusion Clinique et Biologique.  28 (2021)  4 - p. S30 , 2021
Link: https://doi.org/10.1016/..
 
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12

Une hypoplasie ponto-cérébelleuse causée par l'accumulation..:

Ucuncu, Ekin ; Rajamani, Karthyayani ; Burglen, Lydie...
médecine/sciences.  37 (2021)  6-7 - p. 572-574 , 2021
Link: https://doi.org/10.1051/..
 
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13

Caractérisation par FISH, cartographie optique du génome et..:

Nicolle, Romain ; Siquier-Pernet, Karine ; Rio, Marlène...
Morphologie.  105 (2021)  350 - p. S16-S17 , 2021
Link: https://doi.org/10.1016/..
 
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14

Terminal 6q deletions cause brain malformations, a phenotyp..:

Lesieur‐Sebellin, Marion ; Till, Marianne ; Khau Van Kien, Philippe...
Prenatal Diagnosis.  42 (2021)  1 - p. 118-135 , 2021
Link: https://doi.org/10.1002/..
 
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15

Opposite Modulation of RAC1 by Mutations in TRIO Is Associa..:

Barbosa, Sónia ; Greville-Heygate, Stephanie ; Bonnet, Maxime...
The American Journal of Human Genetics.  106 (2020)  3 - p. 338-355 , 2020
Link: https://doi.org/10.1016/..
 
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