E-LIB Suche - Ergebnisse für: MICHAUD, Vincent

1

Extending the clinical spectrum of X-linked Tonne-Kalscheue..:

Cuinat, Silvestre ; Quélin, Chloé ; Effray, Claire...
Journal of Medical Genetics. , 2024

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

2

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

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

3

Detection of Crimean–Congo haemorrhagic fever virus in Hyal..:

Bernard, Célia ; Joly Kukla, Charlotte ; Rakotoarivony, Ignace...
Eurosurveillance. 29 (2024) 6 - p. , 2024

Link: https://doi.org/10.2807/..

4

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/..

5

Genotypic spectrum of albinism in Mali:

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

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

6

Proteome characterization of XPC-deficient melanocytes gene..:

Cario, Muriel ; Scalia, Julie ; Mahfouf, Walid...
Journal of Dermatological Science. 114 (2024) 2 - p. 79-82 , 2024

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

7

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/..

8

KCNT2‐Related Disorders: Phenotypes, Functional, and Pharma..:

Cioclu, Maria Cristina ; Mosca, Ilaria ; Ambrosino, Paolo...
Annals of Neurology. 94 (2023) 2 - p. 332-349 , 2023

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

9

Flying Syringes for Emerging Enzootic Virus Screening: Proo..:

Valente, Adeline ; Jiolle, Davy ; Ravel, Sophie...
Transboundary and Emerging Diseases. 2023 (2023) - p. 1-10 , 2023

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

10

ARF1-related disorder: phenotypic and molecular spectrum:

de Sainte Agathe, Jean-Madeleine ; Pode-Shakked, Ben ; Naudion, Sophie...
Journal of Medical Genetics. 60 (2023) 10 - p. 999-1005 , 2023

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

11

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/..

12

Unsuspected consequences of synonymous and missense variant..:

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

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

13

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/..

14

Aminoacylation‐defective bi‐allelic mutations in human EPRS..:

Jin, Danni ; Wek, Sheree A. ; Cordova, Ricardo A....
Clinical Genetics. 103 (2022) 3 - p. 358-363 , 2022

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

15

KCNQ2 R144 variants cause neurodevelopmental disability wit..:

Miceli, Francesco ; Millevert, Charissa ; Soldovieri, Maria Virginia...
eBioMedicine. 81 (2022) - p. 104130 , 2022

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