E-LIB Suche - Ergebnisse für: Marquet, Valentine

1

3q29 duplications: A cohort of 46 patients and a literature..:

Massier, Marie ; Doco‐Fenzy, Martine ; Egloff, Matthieu...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024

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

2

Clinical and genomic delineation of the new proximal 19p13...:

Jouret, Guillaume ; Egloff, Matthieu ; Landais, Emilie...
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 52-63 , 2022

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

3

GM2 gangliosidosis AB variant: first case of late onset and..:

Ganne, Benjamin ; Dauriat, Benjamin ; Richard, Laurence...
Neurological Sciences. 43 (2022) 11 - p. 6517-6527 , 2022

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

4

Telomere aberrations, including telomere loss, doublets, an..:

M'kacher, Radhia ; Colicchio, Bruno ; Marquet, Valentine...
Fertility and Sterility. 115 (2021) 1 - p. 164-173 , 2021

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

5

Telomere and Centromere Staining Followed by M-FISH Improve..:

M'kacher, Radhia ; Colicchio, Bruno ; Borie, Claire...
Genes. 11 (2020) 5 - p. 475 , 2020

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

6

« Test ADNlc T21 » ou test génétique non invasif de dépista..:

Gouas, Laetitia ; Callier, Patrick ; Chelloug, Nora...
Morphologie. 102 (2018) 338 - p. 140-141 , 2018

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

7

Familial 1p36.3 microduplication resulting from a 1p-9q non..:

Marquet, Valentine ; Bourthoumieu, Sylvie ; Dobrescu, Amelia..
European Journal of Medical Genetics. 60 (2017) 11 - p. 583-588 , 2017

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

8

Meiotic pairing and gene expression disturbance in germ cel..:

Barasc, Harmonie ; Congras, Annabelle ; Mary, Nicolas...
Chromosome Research. 24 (2016) 4 - p. 511-527 , 2016

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

9

Microduplication 1p36.3 chez un enfant de 2ans avec retard ..:

Marquet, Valentine ; Bourthoumieux, Sylvie ; Laroche-Raynaud, Cécile.
Morphologie. 100 (2016) 330 - p. 177 , 2016

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

10

Erratum to: Meiotic pairing and gene expression disturbance..:

Barasc, Harmonie ; Congras, Annabelle ; Mary, Nicolas...
Chromosome Research. 24 (2016) 4 - p. 529-530 , 2016

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

11

Double deletion of a chromosome 21 inserted in a chromosome..:

Marquet, Valentine ; Bourgeois, Dominique ; De Mas, Philippe...
Clinical Case Reports. 3 (2015) 9 - p. 757-761 , 2015

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

12

Clinical and genomic delineation of the new proximal 19p13...:

JOURET, Guillaume ; EGLOFF, Matthieu ; LANDAIS, Emilie...
1552-4833. , 2023

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

13

GM2 gangliosidosis AB variant: first case of late onset and..:

Ganne, Benjamin ; Dauriat, Benjamin ; Richard, Laurence...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s10072-022-06270-x. , 2022

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

14

GM2 gangliosidosis AB variant: first case of late onset and..:

Ganne, Benjamin ; Dauriat, Benjamin ; Richard, Laurence...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s10072-022-06270-x. , 2022

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

15

GM2 gangliosidosis AB variant: first case of late onset and..:

Ganne, Benjamin ; Dauriat, Benjamin ; Richard, Laurence...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s10072-022-06270-x. , 2022

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