E-LIB Suche - Ergebnisse für: Ghoumid, Jamal

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

Enhancing performance in solar air channels: A numerical an..:

Jamal, Ikrame ; Barhdadi, Fatima-Zahra ; Amghar, Kamal...
Applied Thermal Engineering. 251 (2024) - p. 123561 , 2024

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

3

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/..

4

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/..

5

DataSheet1_Recurrent "outsider" intronic variation in the S..:

Lamisse Mansour-Hendili ; Cyril Gitiaux ; Madeleine Harion...
doi:10.3389/fgene.2024.1352006.s001. , 2024

Link: https://doi.org/10.3389/..

6

DataSheet1_Recurrent "outsider" intronic variation in the S..:

Lamisse Mansour-Hendili ; Cyril Gitiaux ; Madeleine Harion...
doi:10.3389/fgene.2024.1352006.s001. , 2024

Link: https://doi.org/10.3389/..

7

DataSheet1_Recurrent "outsider" intronic variation in the S..:

Lamisse Mansour-Hendili ; Cyril Gitiaux ; Madeleine Harion...
doi:10.3389/fgene.2024.1352006.s001. , 2024

Link: https://doi.org/10.3389/..

8

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/..

9

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/..

10

Childhood-onset progressive dystonia associated with pathog..:

Doummar, D ; Treven, M ; Qebibo, L...
10.1002/acn3.51444. , 2023

Link: https://hdl.handle.net/2..

11

GenIDA, an international participatory database to better c..:

Burger, Pauline ; Colin, Florent ; Strehle, Axelle...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gimo.2023.100699. , 2023

Link: https://hal.science/hal-..

12

The different clinical facets of SYN1-related neurodevelopm..:

Parenti, I ; Leitão, E ; Kuechler, A...
10.3389/fcell.2022.1019715. , 2023

Link: https://hdl.handle.net/2..

13

O46: GenIDA, an international participatory database to bet..:

Pauline Burger ; Florent Colin ; Axelle Strehle...
http://www.sciencedirect.com/science/article/pii/S2949774423006994. , 2023

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

14

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/..

15

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/..