E-LIB Suche - Ergebnisse für: Vuillaume, Marie‐Laure

1

Novel missense mutations in PTCHD1 alter its plasma membran..:

Halewa, Judith ; Marouillat, Sylviane ; Dixneuf, Manon...
Human Mutation. 42 (2021) 7 - p. 848-861 , 2021

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

2

Haploinsufficiency of the HIRA gene located in the 22q11 de..:

Jeanne, Médéric ; Vuillaume, Marie-Laure ; Ung, Dévina C....
Human Genetics. 140 (2021) 6 - p. 885-896 , 2021

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

3

Expanding the genotypic and phenotypic spectrum of severe s..:

Abdelfattah, Fatima ; Kariminejad, Ariana ; Kahlert, Anne‐Karin...
Human Mutation. 41 (2020) 9 - p. 1615-1628 , 2020

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

4

CUGC for Simpson-Golabi-Behmel syndrome (SGBS):

Vuillaume, Marie-Laure ; Moizard, Marie-Pierre ; Baumer, Alessandra...
European Journal of Human Genetics. 27 (2019) 4 - p. 663-668 , 2019

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

5

Fryns type mesomelic dysplasia of the upper limbs caused by..:

Le Caignec, Cédric ; Pichon, Olivier ; Briand, Annaig...
European Journal of Human Genetics. 28 (2019) 3 - p. 324-332 , 2019

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

6

Identification of rare copy number variations reveals PJA2,..:

Bitar, Tania ; Hleihel, Walid ; Marouillat, Sylviane...
Molecular Genetics & Genomic Medicine. 7 (2019) 8 - p. , 2019

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

7

A novel mutation in the transmembrane 6 domain of GABBR2 le..:

Vuillaume, Marie‐Laure ; Jeanne, Médéric ; Xue, Li...
Annals of Neurology. 83 (2018) 2 - p. 437-439 , 2018

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

8

Early fetal presentation of Koolen-de Vries: Case report wi..:

Sauvestre, Fanny ; Marguet, Florent ; Rooryck, Caroline...
European Journal of Medical Genetics. 60 (2017) 11 - p. 605-609 , 2017

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

9

19p13 microduplications encompassing NFIX are responsible f..:

Trimouille, Aurélien ; Houcinat, Nada ; Vuillaume, Marie-Laure...
European Journal of Human Genetics. 26 (2017) 1 - p. 85-93 , 2017

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

10

Otopalatodigital spectrum disorders: refinement of the phen..:

Moutton, Sébastien ; Fergelot, Patricia ; Naudion, Sophie...
Journal of Human Genetics. 61 (2016) 8 - p. 693-699 , 2016

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

11

SCA27 is a cause of early-onset ataxia and developmental de..:

Planes, Marc ; Rooryck, Caroline ; Vuillaume, Marie-Laure...
European Journal of Paediatric Neurology. 19 (2015) 2 - p. 271-273 , 2015

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

12

New candidate loci identified by array‐CGH in a cohort of 1..:

Vuillaume, Marie‐Laure ; Naudion, Sophie ; Banneau, Guillaume...
American Journal of Medical Genetics Part A. 164 (2014) 8 - p. 1965-1975 , 2014

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

13

Expanding the clinical phenotype at the 3q13.31 locus with ..:

Vuillaume, Marie-Laure ; Delrue, Marie-Ange ; Naudion, Sophie...
Molecular Genetics and Metabolism. 110 (2013) 1-2 - p. 90-97 , 2013

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

14

Use of Gene Expression Profiles of Peripheral Blood Lymphoc..:

Vuillaume, Marie-Laure ; Uhrhammer, Nancy ; Vidal, Véronique...
Cancer Informatics. 7 (2009) - p. CIN.S931 , 2009

Link: https://doi.org/10.4137/..

15

SEMA6B variants cause intellectual disability and alter den..:

Cordovado, Amélie ; Schaettin, Martina ; Jeanne, Mederic...
info:eu-repo/semantics/altIdentifier/doi/10.1093/hmg/ddac114. , 2022

Link: https://hal.science/hal-..