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Ghoumid, Jamal
148
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Online (148)
Mediatypes
Articles (Online) (48)
Bookchapter (Online) (1)
OpenAccess-fulltext (99)
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1
Identification of a novel CFAP61 homozygous splicing varian..:
Barbotin, Anne-Laure
;
Boursier, Angèle
;
Jourdain, Anne-Sophie
...
Journal of Assisted Reproduction and Genetics. 41 (2024) 6 - p. 1499-1505 , 2024
Link:
https://doi.org/10.1007/..
?
2
Expanded phenotypic spectrum of UDP‐glucose‐6‐dehydrogenase..:
Bordeneuve‐Plante, Pauline
;
Boussion, Simon
;
Rama, Mélanie
...
American Journal of Medical Genetics Part A. , 2024
Link:
https://doi.org/10.1002/..
?
3
Recurrent "outsider" intronic variation in the SLC5A6 gene ..:
Mansour-Hendili, Lamisse
;
Gitiaux, Cyril
;
Harion, Madeleine
...
Frontiers in Genetics. 15 (2024) - p. , 2024
Link:
https://doi.org/10.3389/..
?
4
Malformations and Malformative Syndromes Associated with CD..:
, In:
Hereditary Gastric and Breast Cancer Syndrome
,
Vibert, Roseline
;
Ghoumid, Jamal
;
Benusiglio, Patrick R.
- p. 343-360 , 2023
Link:
https://doi.org/10.1007/..
?
5
O46: GenIDA, an international participatory database to bet..:
Burger, Pauline
;
Colin, Florent
;
Strehle, Axelle
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100699 , 2023
Link:
https://doi.org/10.1016/..
?
6
A novel HADHA variant associated with an atypical moderate ..:
Dessein, Anne-Frédérique
;
Hebbar, Eléonore
;
Vamecq, Joseph
...
Molecular Genetics and Metabolism Reports. 31 (2022) - p. 100860 , 2022
Link:
https://doi.org/10.1016/..
?
7
Deep intronicNIPBL de novomutations and differential diagno..:
Coursimault, Juliette
;
Cassinari, Kévin
;
Lecoquierre, François
...
Human Mutation. 43 (2022) 12 - p. 1882-1897 , 2022
Link:
https://doi.org/10.1002/..
?
8
The different clinical facets of SYN1-related neurodevelopm..:
Parenti, Ilaria
;
Leitão, Elsa
;
Kuechler, Alma
...
Frontiers in Cell and Developmental Biology. 10 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
9
Exome sequencing efficacy and phenotypic expansions involvi..:
Sy, Mary R.
;
Chauhan, Jaynee
;
Prescott, Katrina
...
American Journal of Medical Genetics Part A. 188 (2022) 12 - p. 3492-3504 , 2022
Link:
https://doi.org/10.1002/..
?
10
Monoallelic and biallelic variants in LEF1 are associated w..:
Dufour, William
;
Alawbathani, Salem
;
Jourdain, Anne-Sophie
...
Genetics in Medicine. 24 (2022) 8 - p. 1708-1721 , 2022
Link:
https://doi.org/10.1016/..
?
11
Highlighting the Dystonic Phenotype Related to GNAO1:
Wirth, Thomas
;
Garone, Giacomo
;
Kurian, Manju A.
...
Movement Disorders. 37 (2022) 7 - p. 1547-1554 , 2022
Link:
https://doi.org/10.1002/..
?
12
TRIT1 deficiency: Two novel patients with four novel varian..:
Smol, Thomas
;
Brunelle, Perrine
;
Caumes, Roseline
...
European Journal of Medical Genetics. 65 (2022) 11 - p. 104603 , 2022
Link:
https://doi.org/10.1016/..
?
13
Performance of meta-predictors for the classification of ME..:
Smol, Thomas
;
Frénois, Frédéric
;
Manouvrier-Hanu, Sylvie
..
European Journal of Medical Genetics. 65 (2022) 1 - p. 104398 , 2022
Link:
https://doi.org/10.1016/..
?
14
De novo variants in SNAP25 cause an early-onset development..:
Klöckner, Chiara
;
Sticht, Heinrich
;
Zacher, Pia
...
Genetics in Medicine. 23 (2021) 4 - p. 653-660 , 2021
Link:
https://doi.org/10.1038/..
?
15
Childhood‐onset progressive dystonia associated with pathog..:
Doummar, Diane
;
Treven, Marco
;
Qebibo, Leila
...
Annals of Clinical and Translational Neurology. 8 (2021) 10 - p. 1986-1990 , 2021
Link:
https://doi.org/10.1002/..
1-15