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Michaud, Vincent
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1

Genotypic spectrum of albinism in Mali:

Diallo, Modibo ; Sylla, Ousmane ; Sidibé, Mohamed Kole...
Pigment Cell & Melanoma Research.  , 2024
Link: https://doi.org/10.1111/..
 
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2

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/..
 
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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/..
 
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4

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/..
 
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5

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

Smirnov, Vasily M. ; Lasseaux, Eulalie ; Michaud, Vincent...
Documenta Ophthalmologica.  , 2024
Link: https://doi.org/10.1007/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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13

Hemidystonia with polymicrogyria is part of ATP1A3-related ..:

Lacombe, Didier ; Van-Gils, Julien ; Lebrun, Marine...
Brain and Development.  44 (2022)  8 - p. 567-570 , 2022
Link: https://doi.org/10.1016/..
 
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14

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/..
 
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15

The Dct−/− Mouse Model to Unravel Retinogenesis Misregulati..:

Tingaud-Sequeira, Angèle ; Mercier, Elina ; Michaud, Vincent...
Genes.  13 (2022)  7 - p. 1164 , 2022
Link: https://doi.org/10.3390/..
 
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