E-LIB Suche - Ergebnisse für: Ghoumid, Jamal

1

Recurrent "outsider" intronic variation in the SLC5A6 gene ..:

Mansour-Hendili, Lamisse ; Gitiaux, Cyril ; Harion, Madeleine...
Frontiers in Genetics. 15 (2024) - p. , 2024

2

Identification of a novel CFAP61 homozygous splicing varian..:

Barbotin, Anne-Laure ; Boursier, Angèle ; Jourdain, Anne-Sophie...
Journal of Assisted Reproduction and Genetics. , 2024

Link: https://doi.org/10.1007/..

3

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/..

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

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

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/..

13

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/..

14

Smith‐Magenis syndrome: Clinical and behavioral characteris..:

Rive Le Gouard, Nicolas ; Jacquinet, Adeline ; Ruaud, Lyse...
Clinical Genetics. 99 (2021) 4 - p. 519-528 , 2021

Link: https://doi.org/10.1111/..

15

Care management in a French cohort with Down syndrome from ..:

Roux-Levy, Pierre-Henri ; Sanlaville, Damien ; De Freminville, Bénédicte...
European Journal of Medical Genetics. 64 (2021) 10 - p. 104290 , 2021

Link: https://doi.org/10.1016/..