E-LIB Suche - Ergebnisse für: Campeau, Philippe M

1

Mild phenotypes in patients with different deletions in the..:

Miranda, Valancy ; Sabeh, Pascale ; Seiltgens, Cristian...
European Journal of Human Genetics. , 2024

2

Exploring the phenotypic spectrum and osteopenia mechanisms..:

Beauregard-Lacroix, Éliane ; Scott, Alexandra ; Nguyen, Thi Tuyet Mai...
Genetics in Medicine Open. 2 (2024) - p. 101837 , 2024

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

3

Mono-allelic KCNB2 variants lead to a neurodevelopmental sy..:

Bhat, Shreyas ; Rousseau, Justine ; Michaud, Coralie...
The American Journal of Human Genetics. 111 (2024) 4 - p. 761-777 , 2024

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

4

Functional studies in yeast confirm the pathogenicity of a ..:

Mehrjoo, Yosra ; Campeau, Philippe M. ; Al Abdi, Lama...
Clinical Genetics. , 2024

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

5

Model matchmaking via the Solve-RD Rare Disease Models & Me..:

Ellwanger, Kornelia ; Brill, Julie A. ; de Boer, Elke...
Lab Animal. 53 (2024) 7 - p. 161-165 , 2024

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

6

OXR1 maintains the retromer to delay brain aging under diet..:

Wilson, Kenneth A. ; Bar, Sudipta ; Dammer, Eric B....
Nature Communications. 15 (2024) 1 - p. , 2024

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

7

Bi‐allelic variants in MYH3 cause recessively‐inherited art..:

Morali, Burcin ; Miranda, Valancy ; Raelson, John...
Clinical Genetics. , 2024

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

8

PhenoScore quantifies phenotypic variation for rare genetic..:

Dingemans, Alexander J. M. ; Hinne, Max ; Truijen, Kim M. G....
Nature Genetics. 55 (2023) 9 - p. 1598-1607 , 2023

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

9

Development of a core outcome set for mucopolysaccharidoses..:

Howie, Alison H. ; Wyatt, Alexandra ; Inbar-Feigenberg, Michal...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107154 , 2023

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

10

An adult patient with Tatton–Brown–Rahman syndrome caused b..:

AlSabah, Al‐Alya ; Alsalmi, Mohammed ; Massie, Rami...
American Journal of Medical Genetics Part A. 194 (2023) 4 - p. , 2023

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

11

The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes..:

Rousseau, Justine ; Tene Tadoum, Samuel Boris ; Lavertu Jolin, Marisol...
Genes. 14 (2023) 8 - p. 1538 , 2023

Link: https://doi.org/10.3390/..

12

The Quebec Dental Anomalies Registry: Identifying genes for..:

Wredenhagen, Madeleine S ; Goldstein, Andee ; Mathieu, Hélène...
PNAS Nexus. 2 (2023) 6 - p. , 2023

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

13

Gpr18 agonist dampens inflammation, enhances myogenesis, an..:

Dort, Junio ; Orfi, Zakaria ; Fiscaletti, Melissa..
Frontiers in Cell and Developmental Biology. 11 (2023) - p. , 2023

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

14

A clustering of heterozygous missense variants in the cruci..:

Snijders Blok, Lot ; Verseput, Jolijn ; Rots, Dmitrijs...
Human Genetics and Genomics Advances. 4 (2023) 1 - p. 100157 , 2023

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

15

C18orf32 loss-of-function is associated with a neurodevelop..:

Salian, Smrithi ; Guo, Xin-Yu ; Murakami, Yoshiko...
Human Genetics. 141 (2022) 8 - p. 1423-1429 , 2022

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