E-LIB Suche - Ergebnisse für: Caumes, Roseline

1

Expanded phenotypic spectrum of UDP‐glucose‐6‐dehydrogenase..:

Bordeneuve‐Plante, Pauline ; Boussion, Simon ; Rama, Mélanie...
American Journal of Medical Genetics Part A. , 2024

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

2

Developmental epileptic encephalopathy in DLG4‐related syna..:

Kassabian, Benedetta ; Levy, Amanda M. ; Gardella, Elena...
Epilepsia. 65 (2024) 4 - p. 1029-1045 , 2024

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

3

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/..

4

How a paternal uniparental isodisomy of chromosome 17 leads..:

Verebi, Camille ; Caumes, Roseline ; Chantot-Bastaraud, Sandra...
Neuromuscular Disorders. 33 (2023) 5 - p. 367-370 , 2023

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

5

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/..

6

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
European Journal of Human Genetics. , 2023

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

7

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/..

8

TRIT1 deficiency: Two novel patients with four novel varian..:

Smol, Thomas ; Brunelle, Perrine ; Caumes, Roseline...
European Journal of Medical Genetics. 65 (2022) 11 - p. 104603 , 2022

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

9

NEXMIF encephalopathy: an X-linked disorder with male and f..:

Stamberger, Hannah ; Hammer, Trine B. ; Gardella, Elena...
Genetics in Medicine. 23 (2021) 2 - p. 363-373 , 2021

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

10

Leukoencephalopathy with calcifications and cysts: Genetic ..:

Crow, Yanick J ; Marshall, Heather ; Rice, Gillian I...
American Journal of Medical Genetics Part A. 185 (2020) 1 - p. 15-25 , 2020

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

11

Phenotypic spectrum of SHANK2-related neurodevelopmental di..:

Caumes, Roseline ; Smol, Thomas ; Thuillier, Caroline...
European Journal of Medical Genetics. 63 (2020) 12 - p. 104072 , 2020

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

12

Neurodevelopmental phenotype associated with CHD8-SUPT16H d..:

Smol, Thomas ; Thuillier, Caroline ; Boudry-Labis, Elise...
neurogenetics. 21 (2019) 1 - p. 67-72 , 2019

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

13

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-r..:

Ghoumid, Jamal ; Petit, Florence ; Boute-Benejean, Odile...
European Journal of Human Genetics. 25 (2017) 8 - p. 1011-1014 , 2017

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

14

15q11.2 microdeletion (BP1–BP2) and developmental delay, be..:

Vanlerberghe, Clémence ; Petit, Florence ; Malan, Valérie...
European Journal of Medical Genetics. 58 (2015) 3 - p. 140-147 , 2015

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

15

Delineation ofEFTUD2Haploinsufficiency-Related Phenotypes T..:

Lehalle, Daphné ; Gordon, Christopher T. ; Oufadem, Myriam...
Human Mutation. 35 (2014) 4 - p. 478-485 , 2014

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