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Vial, Yoann
61
results:
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Format
Online (61)
Mediatypes
Articles (Online) (21)
OpenAccess-fulltext (40)
Languages
english (57)
french (2)
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?
1
Mcph1, mutated in primary microcephaly, is also crucial for..:
Vial, Yoann
;
Nardelli, Jeannette
;
Bonnard, Adeline A
...
EMBO Reports. 25 (2024) 5 - p. 2418-2440 , 2024
Link:
https://doi.org/10.1038/..
?
2
Dermatological manifestations in Costello syndrome: A prosp..:
Bessis, Didier
;
Bursztejn, Anne‐Claire
;
Morice‐Picard, Fanny
...
Journal of the European Academy of Dermatology and Venereology. , 2024
Link:
https://doi.org/10.1111/..
?
3
Expanding the phenotype of GTF2E2‐associated trichothiodyst..:
Sperelakis‐Beedham, Brian
;
Ruaud, Lyse
;
Vial, Yoann
...
Journal of the European Academy of Dermatology and Venereology. 38 (2023) 3 - p. , 2023
Link:
https://doi.org/10.1111/..
?
4
Early treatment of neonatal diabetes with oral glibenclamid..:
Galderisi, Alfonso
;
Kermorvant‐Duchemin, Elsa
;
Daruich, Alejandra
...
JIMD Reports. 64 (2023) 2 - p. 161-166 , 2023
Link:
https://doi.org/10.1002/..
?
5
Germline bi-allelic SH2B3/LNK alteration predisposes to a n..:
Arfeuille, Chloé
;
Vial, Yoann
;
Cadenet, Margaux
...
Haematologica. , 2023
Link:
https://doi.org/10.3324/..
?
6
Pediatric Tumors and Developmental Anomalies: A French Nati..:
Semeraro, Michaela
;
Fouquet, Cyrielle
;
Vial, Yoann
...
The Journal of Pediatrics. 259 (2023) - p. 113451 , 2023
Link:
https://doi.org/10.1016/..
?
7
Expanding the molecular spectrum of pathogenicSHOC2variants..:
Motta, Marialetizia
;
Solman, Maja
;
Bonnard, Adeline A
...
Human Molecular Genetics. 31 (2022) 16 - p. 2766-2778 , 2022
Link:
https://doi.org/10.1093/..
?
8
Retrotransposon insertion as a novel mutational cause of sp..:
Vezain, Myriam
;
Thauvin-Robinet, Christel
;
Vial, Yoann
...
Human Genetics. 142 (2022) 1 - p. 125-138 , 2022
Link:
https://doi.org/10.1007/..
?
9
De novo NUF2 variant in a novel inherited bone marrow failu..:
Vial, Yoann
;
Lainey, Elodie
;
Leblanc, Thierry
...
British Journal of Haematology. 199 (2022) 5 - p. 739-743 , 2022
Link:
https://doi.org/10.1111/..
?
10
Hereditary spherocytosis associated with Noonan syndrome mi..:
Faggetter, Sarah
;
Ferster, Alina
;
Dedeken, Laurence
...
Pediatric Blood & Cancer. 70 (2022) 4 - p. , 2022
Link:
https://doi.org/10.1002/..
?
11
Hypophosphatemic rickets: A rare complication of congenital..:
Welfringer‐Morin, Anne
;
Pinto, Graziella
;
Baujat, Geneviève
...
Pediatric Dermatology. 37 (2020) 3 - p. 541-544 , 2020
Link:
https://doi.org/10.1111/..
?
12
The clinical significance of A2ML1 variants in Noonan syndr..:
Brinkmann, Julia
;
Lissewski, Christina
;
Pinna, Valentina
...
European Journal of Human Genetics. 29 (2020) 3 - p. 524-527 , 2020
Link:
https://doi.org/10.1038/..
?
13
Cherubism as a systemic skeletal disease: evidence from an ..:
Morice, Anne
;
Joly, Aline
;
Ricquebourg, Manon
...
BMC Musculoskeletal Disorders. 21 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
?
14
Variants of SOS2 are a rare cause of Noonan syndrome with p..:
Lissewski, Christina
;
Chune, Valérie
;
Pantaleoni, Francesca
...
European Journal of Human Genetics. 29 (2020) 1 - p. 51-60 , 2020
Link:
https://doi.org/10.1038/..
?
15
VPS51 biallelic variants cause microcephaly with brain malf..:
Uwineza, Annette
;
Caberg, Jean-Hubert
;
Hitayezu, Janvier
...
European Journal of Medical Genetics. 62 (2019) 8 - p. 103704 , 2019
Link:
https://doi.org/10.1016/..
1-15