E-LIB Suche - Ergebnisse für: Lasseaux, Eulalie

1

Crossed VEP asymmetry in a patient with AHR-linked infantil..:

Smirnov, Vasily M. ; Lasseaux, Eulalie ; Michaud, Vincent...
Documenta Ophthalmologica. 149 (2024) 1 - p. 47-52 , 2024

2

Functional Characterization of Splice Variants in the Diagn..:

Diallo, Modibo ; Courdier, Cécile ; Mercier, Elina...
International Journal of Molecular Sciences. 25 (2024) 16 - p. 8657 , 2024

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

3

Genotypic spectrum of albinism in Mali:

Diallo, Modibo ; Sylla, Ousmane ; Sidibé, Mohamed Kole...
Pigment Cell & Melanoma Research. , 2024

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

4

A multilayered approach to the analysis of genetic data fro..:

Sergouniotis, Panagiotis I. ; Michaud, Vincent ; Lasseaux, Eulalie...
Journal of Medical Genetics. 60 (2023) 12 - p. 1245-1249 , 2023

Link: https://doi.org/10.1136/..

5

A novel pathogenic variant in the FZD6 gene causes recessiv..:

Lanvin, Pierre-Louis ; Lebreton, Louis ; Lasseaux, Eulalie...
Clinical and Experimental Dermatology. 48 (2023) 12 - p. 1414-1417 , 2023

Link: https://doi.org/10.1093/..

6

Characterization of the novel HLA‐DRB1*11:01:01:12N allele ..:

Cargou, Marine ; Elsermans, Vincent ; Cambridge, Charlotte A...
HLA. 102 (2023) 6 - p. 765-768 , 2023

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

7

Ophthalmologic Phenotype–Genotype Correlations in Patients ..:

Seguy, Paul-Henri ; Korobelnik, Jean-François ; Delyfer, Marie-Noëlle...
Investigative Opthalmology & Visual Science. 64 (2023) 12 - p. 26 , 2023

Link: https://doi.org/10.1167/..

8

A novel compound heterozygous variant in the LLS gene is as..:

Morice-Picard, Fanny ; Lanvin, Pierre-Louis ; Lasseaux, Eulalie...
Clinical and Experimental Dermatology. 48 (2023) 9 - p. 1087-1089 , 2023

Link: https://doi.org/10.1093/..

9

Unsuspected consequences of synonymous and missense variant..:

Michaud, Vincent ; Sequeira, Angèle ; Mercier, Elina...
Pigment Cell & Melanoma Research. , 2023

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

10

De novo coding variants in the AGO1 gene cause a neurodevel..:

SCHALK, Audrey ; COUSIN, Margot A ; DSOUZA, Nikita R...
https://oskar-bordeaux.fr/handle/20.500.12278/184714. , 2023

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

11

A multilayered approach to the analysis of genetic data fro..:

Sergouniotis, Panagiotis I ; Michaud, Vincent ; Lasseaux, Eulalie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10715518/. , 2023

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

12

A multilayered approach to the analysis of genetic data fro..:

Sergouniotis, Panos ; Michaud, Vincent ; Lasseaux, Eulalie...
Sergouniotis , P , Michaud , V , Lasseaux , E , Campbell , C , Plaisant , C , Javerzat , S , Birney , E , Ramsden , S , Black , G & Arveiler , B 2023 , ' A multilayered approach to the analysis of genetic data from individuals with suspected albinism ' , Journal of Medical Genetics . https://doi.org/10.1136/jmg-2022-109088. , 2023

Link: https://research.manches..

13

Ophthalmologic Phenotype–Genotype Correlations in Patients ..:

Seguy, Paul-Henri ; Korobelnik, Jean-François ; Delyfer, Marie-Noëlle...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10506686/. , 2023

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

14

Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype ..:

Moreno-Artero, Ester ; Morice-Picard, Fanny ; Lasseaux, Eulalie...
Genes. 13 (2022) 12 - p. 2198 , 2022

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

15

Contributors:

, In: Clinical Ophthalmic Genetics and Genomics,

Aleman, Tomas S. ; Amati-Bonneau, Patrizia ; Arveiler, Benoît... - p. xi-xiv , 2022

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