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Jeanne, Médéric
83  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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