I agree that this site is using cookies. You can find further informations here.
X
El Chehadeh, Salima
287  results:
Search for persons X
?
1

Copy Number Variation and Epilepsy: State of the Art in the..:

Baer, Sarah ; Schalk, Audrey ; Miguet, Marguerite...
Pediatric Neurology.  159 (2024)  - p. 16-25 , 2024
Link: https://doi.org/10.1016/..
 
?
2

Cerebral dural arteriovenous fistulas in patients with PTEN..:

Gerasimenko, Anna ; Mignot, Cyril ; Naggara, Olivier...
Clinical Genetics.  106 (2024)  1 - p. 90-94 , 2024
Link: https://doi.org/10.1111/..
 
?
3

Pathogenic variants affecting the TB5 domain of the fibrill..:

Arnaud, Pauline ; Mougin, Zakaria ; Baujat, Genevieve...
Journal of Medical Genetics.  , 2024
Link: https://doi.org/10.1136/..
 
?
4

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic ..:

Schuermans, Nika ; El Chehadeh, Salima ; Hemelsoet, Dimitri...
Nature Genetics.  55 (2023)  11 - p. 1929-1940 , 2023
Link: https://doi.org/10.1038/..
 
?
5

Patient satisfaction, experience and preferences in the imp..:

Lançon, Allan ; Beaudouin, Amandine ; Lambert, Laetitia...
European Journal of Medical Genetics.  66 (2023)  10 - p. 104841 , 2023
Link: https://doi.org/10.1016/..
 
?
6

Low risk of embryonic and other cancers in PIK3CA‐related o..:

Faivre, Laurence ; Crépin, Jean‐Charles ; Réda, Manon...
Clinical Genetics.  104 (2023)  5 - p. 554-563 , 2023
Link: https://doi.org/10.1111/..
 
?
7

Growth charts in DYRK1A syndrome:

Lanvin, Pierre‐Louis ; Goronflot, Thomas ; Isidor, Bertrand...
American Journal of Medical Genetics Part A.  194 (2023)  1 - p. 9-16 , 2023
Link: https://doi.org/10.1002/..
 
?
8

Stepwise use of genomics and transcriptomics technologies i..:

Colin, Estelle ; Duffourd, Yannis ; Chevarin, Martin...
Frontiers in Cell and Developmental Biology.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
?
9

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/..
 
?
10

A homozygous MED11 C-terminal variant causes a lethal neuro..:

Calì, Elisa ; Lin, Sheng-Jia ; Rocca, Clarissa...
Genetics in Medicine.  24 (2022)  10 - p. 2194-2203 , 2022
Link: https://doi.org/10.1016/..
 
?
11

Same performance of exome sequencing before and after fetal..:

Bourgon, Nicolas ; Garde, Aurore ; Bruel, Ange-Line...
European Journal of Human Genetics.  30 (2022)  8 - p. 967-975 , 2022
Link: https://doi.org/10.1038/..
 
?
12

SLITRK2 variants associated with neurodevelopmental disorde..:

El Chehadeh, Salima ; Han, Kyung Ah ; Kim, Dongwook...
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
?
13

Expanding the phenotypic spectrum of ARCN1-related syndrome:

Ritter, Alyssa L. ; Gold, Jessica ; Hayashi, Hiroshi...
Genetics in Medicine.  24 (2022)  6 - p. 1227-1237 , 2022
Link: https://doi.org/10.1016/..
 
?
14

IRAK1 Duplication in MECP2 Duplication Syndrome Does Not In..:

Gottschalk, Ilona ; Kölsch, Uwe ; Wagner, Dimitrios L....
Journal of Clinical Immunology.  43 (2022)  2 - p. 421-439 , 2022
Link: https://doi.org/10.1007/..
 
?
15

Molecular and clinical descriptions of patients with GABAA ..:

Maillard, Pierre‐Yves ; Baer, Sarah ; Schaefer, Élise...
Epilepsia.  63 (2022)  10 - p. 2519-2533 , 2022
Link: https://doi.org/10.1111/..
 
1-15