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Jeanne, Médéric
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Online (83)
Mediatypes
Articles (Online) (18)
OpenAccess-fulltext (65)
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1
Recurrent ATP1A1 variant Gly903Arg causes developmental del..:
Dohrn, Maike F.
;
Bademci, Guney
;
Rebelo, Adriana P.
...
Annals of Clinical and Translational Neurology. 11 (2024) 4 - p. 1075-1079 , 2024
Link:
https://doi.org/10.1002/..
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2
O35: Feasibility of expanded newborn screening using genome..:
Chung, Wendy
;
Ziegler, Alban
;
Koval-Burt, Carrie
...
Genetics in Medicine Open. 2 (2024) - p. 101369 , 2024
Link:
https://doi.org/10.1016/..
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3
DISP1 deficiency: Monoallelic and biallelic variants cause ..:
Lavillaureix, Alinoë
;
Rollier, Paul
;
Kim, Artem
...
Genetics in Medicine. 26 (2024) 7 - p. 101126 , 2024
Link:
https://doi.org/10.1016/..
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4
A Child with a Congenital Aplasia of the Scalp: A Quiz:
Dours, Louis
;
Jeanne, Médéric
;
Srour, Maya
.
Acta Dermato-Venereologica. 104 (2024) - p. adv39948 , 2024
Link:
https://doi.org/10.2340/..
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5
Rare disease diagnosis using knowledge guided retrieval aug..:
Zelin, Charlotte
;
Chung, Wendy K.
;
Jeanne, Mederic
..
Journal of Biomedical Informatics. , 2024
Link:
https://doi.org/10.1016/..
?
6
Biallelic null variants in PNPLA8 cause microcephaly by red..:
Nakamura, Yuji
;
Shimada, Issei S
;
Maroofian, Reza
...
Brain. , 2024
Link:
https://doi.org/10.1093/..
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7
Sweet ending: When genetics prevent a dramatic CDG diagnost..:
Civit, Antoine
;
Gueguen, Paul
;
Blasco, Helene
...
Clinica Chimica Acta. 551 (2023) - p. 117620 , 2023
Link:
https://doi.org/10.1016/..
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8
Contribution of the dihydropyrimidinase-like proteins famil..:
Desprez, Florence
;
Ung, Dévina C.
;
Vourc'h, Patrick
..
Frontiers in Neuroscience. 17 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
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9
SEMA6B variants cause intellectual disability and alter den..:
Cordovado, Amélie
;
Schaettin, Martina
;
Jeanne, Médéric
...
Human Molecular Genetics. 31 (2022) 19 - p. 3325-3340 , 2022
Link:
https://doi.org/10.1093/..
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10
The Roles of NEDD4 Subfamily of HECT E3 Ubiquitin Ligases i..:
Haouari, Shanez
;
Vourc'h, Patrick
;
Jeanne, Médéric
...
International Journal of Molecular Sciences. 23 (2022) 7 - p. 3882 , 2022
Link:
https://doi.org/10.3390/..
?
11
Accelerated genome sequencing with controlled costs for inf..:
Denommé-Pichon, Anne-Sophie
;
Vitobello, Antonio
;
Olaso, Robert
...
European Journal of Human Genetics. 30 (2021) 5 - p. 567-576 , 2021
Link:
https://doi.org/10.1038/..
?
12
Heterozygous variants in ZBTB7A cause a neurodevelopmental ..:
von der Lippe, Charlotte
;
Tveten, Kristian
;
Prescott, Trine E.
...
American Journal of Medical Genetics Part A. 188 (2021) 1 - p. 272-282 , 2021
Link:
https://doi.org/10.1002/..
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13
Haploinsufficiency of the HIRA gene located in the 22q11 de..:
Jeanne, Médéric
;
Vuillaume, Marie-Laure
;
Ung, Dévina C.
...
Human Genetics. 140 (2021) 6 - p. 885-896 , 2021
Link:
https://doi.org/10.1007/..
?
14
A novel mutation in the transmembrane 6 domain of GABBR2 le..:
Vuillaume, Marie‐Laure
;
Jeanne, Médéric
;
Xue, Li
...
Annals of Neurology. 83 (2018) 2 - p. 437-439 , 2018
Link:
https://doi.org/10.1002/..
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15
Expanding the phenotype of the X-linked BCOR microphthalmia..:
DDD Study
;
Ragge, Nicola
;
Isidor, Bertrand
...
Human Genetics. 138 (2018) 8-9 - p. 1051-1069 , 2018
Link:
https://doi.org/10.1007/..
1-15