E-LIB Suche - Ergebnisse für: Bruel, Ange-Line

1

Clinico-biological refinement of BCL11B-related disorder an..:

Sabbagh, Quentin ; Haghshenas, Sadegheh ; Piard, Juliette...
Genetics in Medicine. 26 (2024) 1 - p. 101007 , 2024

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

2

Confirmation and expansion of the phenotype of the TCEAL1-r..:

Albuainain, Fatimah ; Shi, Yuwei ; Lor-Zade, Sarah...
European Journal of Human Genetics. , 2024

Link: https://doi.org/10.1038/..

3

Differential alternative splicing analysis links variation ..:

Hannes, Laurens ; Atzori, Marta ; Goldenberg, Alice...
Genetics in Medicine. 26 (2024) 4 - p. 101059 , 2024

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

4

Exome sequencing in the etiologic assessment of the stroke ..:

Mania-Pâris, Loraine ; Thomas, Quentin ; Vitobello, Antonio...
Journal of the Neurological Sciences. 455 (2023) - p. 121942 , 2023

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

5

TRAPPC6B biallelic variants cause a neurodevelopmental diso..:

Almousa, Hashem ; Lewis, Sara A ; Bakhtiari, Somayeh...
Brain. 147 (2023) 1 - p. 311-324 , 2023

Link: https://doi.org/10.1093/..

6

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
Genetics in Medicine. 25 (2023) 4 - p. 100018 , 2023

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

7

Delineation of the adult phenotype of Coffin–Siris syndrome..:

Schmetz, Ariane ; Lüdecke, Hermann-Josef ; Surowy, Harald...
Human Genetics. 143 (2023) 1 - p. 71-84 , 2023

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

8

YWHAE loss of function causes a rare neurodevelopmental dis..:

Denommé-Pichon, Anne-Sophie ; Collins, Stephan C. ; Bruel, Ange-Line...
Genetics in Medicine. 25 (2023) 7 - p. 100835 , 2023

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

9

BRAT1–related disorders: phenotypic spectrum and phenotype-..:

Engel, Camille ; Valence, Stéphanie ; Delplancq, Geoffroy...
European Journal of Human Genetics. , 2023

Link: https://doi.org/10.1038/..

10

Monoallelic intragenic POU3F2 variants lead to neurodevelop..:

Schönauer, Ria ; Jin, Wenjun ; Findeisen, Christin...
The American Journal of Human Genetics. 110 (2023) 6 - p. 998-1007 , 2023

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

11

Pathogenic RAB34 variants impair primary cilium assembly an..:

Bruel, Ange-Line ; Ganga, Anil Kumar ; Nosková, Lenka...
Human Molecular Genetics. 32 (2023) 18 - p. 2822-2831 , 2023

Link: https://doi.org/10.1093/..

12

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/..

13

Heterozygous pathogenic variants in POMC are not responsibl..:

Le Collen, Lauriane ; Delemer, Brigitte ; Poitou, Christine...
Genetics in Medicine. 25 (2023) 7 - p. 100857 , 2023

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

14

The neurodevelopmental and facial phenotype in individuals ..:

Aerden, Mio ; Denommé-Pichon, Anne-Sophie ; Bonneau, Dominique...
European Journal of Human Genetics. 31 (2023) 4 - p. 461-468 , 2023

Link: https://doi.org/10.1038/..

15

Combining globally search for a regular expression and prin..:

Tran Mau-Them, Frédéric ; Overs, Alexis ; Bruel, Ange-Line...
Frontiers in Genetics. 14 (2023) - p. , 2023

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