E-LIB Suche - Ergebnisse für: Geneviève, David

1

Biallelic variants in CSMD1 are implicated in a neurodevelo..:

Werren, Elizabeth A. ; Peirent, Emily R. ; Jantti, Henna...
Cell Death & Disease. 15 (2024) 5 - p. , 2024

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

2

The detection of a strong episignature for Chung–Jansen syn..:

Vos, Niels ; Haghshenas, Sadegheh ; van der Laan, Liselot...
Human Genetics. 143 (2024) 6 - p. 761-773 , 2024

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

3

Speech and language in DDX3X‐neurodevelopmental disorder: A..:

Forbes, Elana J. ; Morison, Lottie D. ; Lelik, Fatma...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. , 2024

Link: https://doi.org/10.1002/..

4

Dermatological manifestations in Costello syndrome: A prosp..:

Bessis, Didier ; Bursztejn, Anne‐Claire ; Morice‐Picard, Fanny...
Journal of the European Academy of Dermatology and Venereology. , 2024

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

5

Autoimmune cytopenia and Kabuki syndrome in paediatrics: In..:

Bianchi, Chloé ; Margot, Henri ; Fernandes, Helder...
British Journal of Haematology. , 2024

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

6

P828: GenIDA, an international participatory database to be..:

Burger, Pauline ; Ruault, Valentin ; Genevieve, David...
Genetics in Medicine Open. 2 (2024) - p. 101739 , 2024

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

7

Next generation phenotyping for diagnosis and phenotype–gen..:

Hennocq, Quentin ; Willems, Marjolaine ; Amiel, Jeanne...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

8

Correction: CDK13-related disorder: a deep characterization..:

Morison, Lottie D. ; van Reyk, Olivia ; Forbes, Elana...
European Journal of Human Genetics. , 2023

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

9

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/..

10

Missense variants in ANKRD11 cause KBG syndrome by impairme..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Kampen, Rosalie A....
Genetics in Medicine. 25 (2023) 11 - p. 100962 , 2023

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

11

A recessive form of craniodiaphyseal dysplasia caused by a ..:

Hendrickx, Gretl ; Boudin, Eveline ; Steenackers, Ellen...
Bone. 167 (2023) - p. 116633 , 2023

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

12

Evaluation of the Effectiveness of Therapy for Anxiety in W..:

Lehman, Natacha ; Trouillet, Raphaël ; Genevieve, David
JMIR Research Protocols. 12 (2023) - p. e44393 , 2023

Link: https://doi.org/10.2196/..

13

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/..

14

SRSF1 haploinsufficiency is responsible for a syndromic dev..:

Bogaert, Elke ; Garde, Aurore ; Gautier, Thierry...
The American Journal of Human Genetics. 110 (2023) 5 - p. 790-808 , 2023

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

15

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/..