E-LIB Suche - Ergebnisse für: Dupont, Jean‐Michel

1

Prenatal diagnosis of a 15q24.1 microdeletion in a fetus wi..:

Previdi, Anaïk ; Jordan, Pénélope ; Egloff, Charles...
Clinical Genetics. , 2024

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

2

An unusual familial Xp22.12 microduplication including EIF1..:

Sakka, Rim ; Abdelhedi, Fatma ; Sellami, Hanen...
European Journal of Medical Genetics. 65 (2022) 11 - p. 104613 , 2022

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

3

Place de la cartographie optique du génome dans la détectio..:

El Khattabi, Laïla ; Schluth-Bolard, Caroline ; Richard-Pebrel, Céline..
Morphologie. 106 (2022) 354 - p. S7-S8 , 2022

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

4

1p36 deletion syndrome: Review and mapping with further cha..:

Jacquin, Clémence ; Landais, Emilie ; Poirsier, Céline...
American Journal of Medical Genetics Part A. 191 (2022) 2 - p. 445-458 , 2022

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

5

Optical genome mapping enables constitutional chromosomal a..:

Mantere, Tuomo ; Neveling, Kornelia ; Richard, Céline...
Molecular Genetics and Metabolism. 132 (2021) - p. S263 , 2021

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

6

Genome sequencing in cytogenetics: Comparison of short‐read..:

Uguen, Kévin ; Jubin, Claire ; Duffourd, Yannis...
Molecular Genetics & Genomic Medicine. 8 (2020) 3 - p. , 2020

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

7

Double chromosomal translocation in an infertile man: one-s..:

Pierron, Lucie ; Irrmann, Alexandra ; de Chalus, Aliénor...
Journal of Assisted Reproduction and Genetics. 36 (2019) 5 - p. 973-978 , 2019

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

8

Altered three-dimensional organization of sperm genome in D..:

Abdelhedi, Fatma ; Chalas, Céline ; Petit, Jean-Maurice...
Journal of Assisted Reproduction and Genetics. 36 (2018) 1 - p. 69-77 , 2018

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

9

Molecular and clinical delineation of 2p15p16.1 microdeleti..:

Lévy, Jonathan ; Coussement, Aurélie ; Dupont, Céline...
American Journal of Medical Genetics Part A. 173 (2017) 8 - p. 2081-2087 , 2017

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

10

Paradoxical Improvement of Schizophrenic Symptoms by a Dopa..:

Alexandre, Charlotte ; Chaumette, Boris ; Martinez, Gilles...
Biological Psychiatry. 80 (2016) 4 - p. e21-e23 , 2016

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

11

A de novo 10p11.23‐p12.1 deletion recapitulates the phenoty..:

Abdelhedi, Fatma ; El Khattabi, Laila ; Essid, Nouha...
American Journal of Medical Genetics Part A. 170 (2016) 7 - p. 1912-1917 , 2016

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

12

Could Digital PCR Be an Alternative as a Non-Invasive Prena..:

El Khattabi, Laïla Allach ; Rouillac-Le Sciellour, Christelle ; Le Tessier, Dominique...
PLOS ONE. 11 (2016) 5 - p. e0155009 , 2016

Link: https://doi.org/10.1371/..

13

Physiopathologie des aneuploïdies : conséquences du déséqui..:

Hervé, Bérénice ; Coussement, Aurélie ; Guilbert, Thomas...
Morphologie. 99 (2015) 327 - p. 163 , 2015

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

14

Unusual isochromosome 5p marker chromosome:

Roulet‐Coudrier, Fanny ; Rouibi, Amine ; Thuillier, Clotilde...
American Journal of Medical Genetics Part A. 167 (2014) 2 - p. 455-459 , 2014

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

15

Complex mosaic CDKL5 deletion with two distinct mutant alle..:

Boutry‐Kryza, Nadia ; Ville, Dorothée ; Labalme, Audrey...
American Journal of Medical Genetics Part A. 164 (2014) 8 - p. 2025-2028 , 2014

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