E-LIB Suche - Ergebnisse für: Désir, Julie

1

Halfway : Towards a Warmer Neighborhood:

, In: Extended Abstracts of the 2024 CHI Conference on Human Factors in Computing Systems,

Desautel, Manon ; Desir, Julie ; Martineau-Côté, Léo - p. 1-5 , 2024

Link: https://dl.acm.org/doi/1..

2

Population screening for 15q11-q13 duplications: corroborat..:

Parijs, Ilse ; Brison, Nathalie ; Vancoillie, Leen...
European Journal of Human Genetics. 32 (2023) 1 - p. 31-36 , 2023

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

3

Réflexions après cinq années de pratique et de remboursemen..:

Désir, Julie ; Donner, Catherine
Cahiers Droit, Sciences & Technologies. , 2022

Link: https://doi.org/10.4000/..

4

GNA11‐mutated Sturge–Weber syndrome has distinct neurologic..:

Dompmartin, Anne ; van der Vleuten, Carine J. M. ; Dekeuleneer, Valérie...
European Journal of Neurology. 29 (2022) 10 - p. 3061-3070 , 2022

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

5

Perinatal presentations of non‐immune hydrops fetalis due t..:

Ghesh, Leïla ; Désir, Julie ; Haye, Damien...
Clinical Genetics. 103 (2022) 5 - p. 560-565 , 2022

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

6

Identification and functional evaluation of GRIA1 missense ..:

Ismail, Vardha ; Zachariassen, Linda G. ; Godwin, Annie...
The American Journal of Human Genetics. 109 (2022) 7 - p. 1217-1241 , 2022

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

7

An unusual familial Xp22.12 microduplication including EIF1..:

Sakka, Rim ; Abdelhedi, Fatma ; Sellami, Hanen...
European Journal of Medical Genetics. 65 (2022) 11 - p. 104613 , 2022

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

8

Compound heterozygous null mutations of NOBOX in sisters wi..:

Sassi, Asma ; Désir, Julie ; Duerinckx, Sarah...
Molecular Genetics & Genomic Medicine. 9 (2021) 10 - p. , 2021

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

9

Outcome of publicly funded nationwide first-tier noninvasiv..:

Van Den Bogaert, Kris ; Lannoo, Lore ; Brison, Nathalie...
Genetics in Medicine. 23 (2021) 6 - p. 1137-1142 , 2021

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

10

Performance and Diagnostic Value of Genome-Wide Noninvasive..:

van Riel, Margot ; Brison, Nathalie ; Baetens, Machteld...
Obstetrics & Gynecology. 137 (2021) 6 - p. 1102-1108 , 2021

Link: https://doi.org/10.1097/..

11

Phenotypes and genotypes in non‐consanguineous and consangu..:

Duerinckx, Sarah ; Désir, Julie ; Perazzolo, Camille...
Molecular Genetics & Genomic Medicine. 9 (2021) 9 - p. , 2021

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

12

A prenatal case of lissencephaly with cerebellar hypoplasia..:

Balza, Claire ; Garofalo, Giulia ; Cos, Teresa...
Clinical Case Reports. 9 (2021) 12 - p. , 2021

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

13

TrkA mediates effect of novel KIDINS220 mutation in human b..:

Jacquemin, Valerie ; Antoine, Mathieu ; Duerinckx, Sarah...
Human Molecular Genetics. 29 (2020) 23 - p. 3757-3764 , 2020

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

14

Middle interhemispheric variant of holoprosencephaly: First..:

Gounongbé, Caroline ; Marangoni, Martina ; Gouder de Beauregard, Vanessa...
Clinical Case Reports. 8 (2020) 7 - p. 1287-1292 , 2020

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

15

Novel features of PIK3CA-Related Overgrowth Spectrum: Lesso..:

De Graer, Celine ; Marangoni, Martina ; Romnée, Stephanie...
European Journal of Medical Genetics. 63 (2020) 4 - p. 103775 , 2020

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