E-LIB Suche - Ergebnisse für: Le Meur, Nathalie

1

Recurrence of an early postzygotic rescue of an inherited u..:

Blanluet, Maud ; Chantot‐Bastaraud, Sandra ; Chambon, Pascal...
American Journal of Medical Genetics Part A. 185 (2021) 10 - p. 3057-3061 , 2021

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

2

Detection of copy-number variations from NGS data using rea..:

FREX Consortium ; Quenez, Olivier ; Cassinari, Kevin...
European Journal of Human Genetics. 29 (2020) 1 - p. 99-109 , 2020

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

3

Rare genetic susceptibility variants assessment in autism s..:

Husson, Thomas ; Lecoquierre, François ; Cassinari, Kevin...
Translational Psychiatry. 10 (2020) 1 - p. , 2020

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

4

De novo TBR1 variants cause a neurocognitive phenotype with..:

CAUSES Study ; Nambot, Sophie ; Faivre, Laurence...
European Journal of Human Genetics. 28 (2020) 6 - p. 770-782 , 2020

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

5

Discordances multiples entre dépistage de la trisomie 21 su..:

Cassinari, Kévin ; Joly-Helas, Géraldine ; Le Meur, Nathalie...
Morphologie. 103 (2019) 342 - p. 85-86 , 2019

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

6

A Simple, Universal, and Cost-Efficient Digital PCR Method ..:

Cassinari, Kévin ; Quenez, Olivier ; Joly-Hélas, Géraldine...
Clinical Chemistry. 65 (2019) 9 - p. 1153-1160 , 2019

Link: https://doi.org/10.1373/..

7

Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, ..:

Gruchy, Nicolas ; Blondeel, Eleonore ; Le Meur, Nathalie...
Prenatal Diagnosis. 36 (2016) 6 - p. 523-529 , 2016

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

8

Clinical assessment of five patients with BRWD3 mutation at..:

Grotto, Sarah ; Drouin-Garraud, Valérie ; Õunap, Katrin...
European Journal of Medical Genetics. 57 (2014) 5 - p. 200-206 , 2014

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

9

APP locus duplication causes autosomal dominant early-onset..:

Rovelet-Lecrux, Anne ; Hannequin, Didier ; Raux, Gregory...
Nature Genetics. 38 (2005) 1 - p. 24-26 , 2005

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

10

Molecular characterization of a 14q deletion in a boy with ..:

Le Meur, Nathalie ; Goldenberg, Alice ; Michel‐Adde, Christine...
American Journal of Medical Genetics Part A. 134A (2005) 4 - p. 439-442 , 2005

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

11

Identification of novelL1CAM mutations using fluorescence-a..:

Saugier-Veber, Pascale ; Martin, Cosette ; Le Meur, Nathalie...
Human Mutation. 12 (1998) 4 - p. 259-266 , 1998

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

12

First clinical description of a pedigree with complete NAF1..:

GALTIER, Jean ; DIMICOLI-SALAZAR, Sophie ; TRIMOUILLE, Aurelien...
1029-2403. , 2023

Link: https://oskar-bordeaux.f..

13

Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disea..:

Grangeon, Lou ; Cassinari, Kévin ; Rousseau, Stéphane...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8439959/. , 2021

Link: http://www.ncbi.nlm.nih...

14

Rare genetic susceptibility variants assessment in autism s..:

Husson, Thomas ; Lecoquierre, François ; Cassinari, Kevin...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41398-020-0760-7. , 2020

Link: https://normandie-univ.h..

15

De novo TBR1 variants cause a neurocognitive phenotype with..:

Nambot, Sophie ; Faivre, Laurence ; Mirzaa, Ghayda...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253452/. , 2020

Link: http://www.ncbi.nlm.nih...