E-LIB Suche - Ergebnisse für: Uguen, Kévin

1

An unusual diagnosis of alpha‐mannosidosis with ocular anom..:

Uguen, Kevin ; Redon, Sylvia ; Rouault, Karen...
American Journal of Medical Genetics Part A. 194 (2024) 5 - p. , 2024

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

2

Insights into the role of glycerophospholipids on the iron ..:

Debbiche, Rim ; Elbahnsi, Ahmad ; Uguen, Kévin...
The FASEB Journal. 38 (2024) 13 - p. , 2024

Link: https://doi.org/10.1096/..

3

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/..

4

Short Tandem Repeats in the era of next-generation sequenci..:

Uguen, Kevin ; Michaud, Jacques L. ; Génin, Emmanuelle
European Journal of Human Genetics. , 2024

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

5

Stepwise use of genomics and transcriptomics technologies i..:

Colin, Estelle ; Duffourd, Yannis ; Chevarin, Martin...
Frontiers in Cell and Developmental Biology. 11 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

6

Familial transmission of chromoanagenesis leads to unpredic..:

Masson, Julie ; Pebrel‐Richard, Céline ; Egloff, Matthieu...
Clinical Genetics. 103 (2023) 4 - p. 401-412 , 2023

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

7

An autosomal-dominant childhood-onset disorder associated w..:

Mah-Som, Annelise Y. ; Daw, Jil ; Huynh, Diana...
The American Journal of Human Genetics. 110 (2023) 11 - p. 1959-1975 , 2023

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

8

The Spectra of Disease-Causing Mutations in the Ferroportin..:

Uguen, Kevin ; Ka, Chandran ; Collod-Béroud, Gwenaelle...
Human Mutation. 2023 (2023) - p. 1-22 , 2023

Link: https://doi.org/10.1155/..

9

MECP2 Dysautonomia Phenotypes in Boys:

Courgeon, Lisa ; Uguen, Kévin ; Lefranc, Jérémie..
Pediatric Neurology. 134 (2022) - p. 31-36 , 2022

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

10

A new case of Kaufman Oculocerebrofacial syndrome caused by..:

Couloigner, Loïc ; Planes, Marc ; Ka, Chandran...
Clinical Genetics. 103 (2022) 3 - p. 377-379 , 2022

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

11

Coding and noncoding variants in EBF3 are involved in HADDS..:

Padhi, Evin M. ; Hayeck, Tristan J. ; Cheng, Zhang...
Human Genomics. 15 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

12

HeterozygousHMGB1loss‐of‐function variants are associated w..:

Uguen, Kévin ; Krysiak, Kilannin ; Audebert‐Bellanger, Séverine...
Clinical Genetics. 100 (2021) 4 - p. 386-395 , 2021

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

13

Splicing analysis of SLC40A1 missense variations and contri..:

Le Tertre, Marlène ; Ka, Chandran ; Raud, Loann...
Blood Cells, Molecules, and Diseases. 87 (2021) - p. 102527 , 2021

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

14

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/..

15

Molecular model of the ferroportin intracellular gate and i..:

Guellec, Julie ; Elbahnsi, Ahmad ; Tertre, Marlene Le...
The FASEB Journal. 33 (2019) 12 - p. 14625-14635 , 2019

Link: https://doi.org/10.1096/..