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1 . Academic Journal
Functional Characterization of Splice Variants in the Diagnosis of Albinism
저자
by
Modibo Diallo
;
Cécile Courdier
;
Elina Mercier
;
Angèle Sequeira
;
Alicia Defay-Stinat
, et al.
소스
International Journal of Molecular Sciences, Vol 25, Iss 16, p 8657 (2024)
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7 . Academic Journal
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism
저자
by
Vincent Michaud
;
Eulalie Lasseaux
;
David J. Green
;
Dave T. Gerrard
;
Claudio Plaisant
, et al.
소스
Nature Communications, Vol 13, Iss 1, Pp 1-8 (2022)
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7 . Academic Journal
Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia
저자
by
Christelle M. Durand
;
Chloé Angelini
;
Vincent Michaud
;
Claire Delleci
;
Isabelle Coupry
, et al.
소스
BMC Neurology, Vol 22, Iss 1, Pp 1-5 (2022)
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7 . Academic Journal
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
저자
by
Francesco Miceli
;
Charissa Millevert
;
Maria Virginia Soldovieri
;
Ilaria Mosca
;
Paolo Ambrosino
, et al.
소스
EBioMedicine, Vol 81, Iss , Pp 104130- (2022)
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7 . Academic Journal
A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies
저자
by
Vincent Michaud
;
Mathieu Fiore
;
Valentine Coste
;
Yoann Huguenin
;
Jean-Claude Bordet
, et al.
소스
Platelets, Vol 32, Iss 3, Pp 420-423 (2021)
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7 . Academic Journal
Crimean-Congo Hemorrhagic Fever Virus Antibodies among Livestock on Corsica, France, 2014–2016
저자
by
Sébastien Grech-Angelini
;
Renaud Lancelot
;
Olivier Ferraris
;
Christophe Nicolas Peyrefitte
;
Nathalie Vachiery
, et al.
소스
Emerging Infectious Diseases, Vol 26, Iss 5, Pp 1041-1044 (2020)
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7 . Academic Journal
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation
저자
by
Ester Moreno-Artero
;
Fanny Morice-Picard
;
Eulalie Lasseaux
;
Matthieu P. Robert
;
Valentine Coste
, et al.
소스
Genes, Vol 13, Iss 12, p 2198 (2022)
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7 . Academic Journal
The Dct−/− Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism
저자
by
Angèle Tingaud-Sequeira
;
Elina Mercier
;
Vincent Michaud
;
Benoît Pinson
;
Ivet Gazova
, et al.
소스
Genes, Vol 13, Iss 7, p 1164 (2022)
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7 . Academic Journal
Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg
저자
by
Clothilde Godillot
;
Maella Severino-Freire
;
Vincent Michaud
;
Franck Boralevi
;
Christine Labrèze
, et al.
소스
Acta Dermato-Venereologica, Vol 99, Iss 10, Pp 921-922 (2019)
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7 . Academic Journal
African Swine Fever Virus Isolate, Georgia, 2007
저자
by
Rebecca J. Rowlands
;
Vincent Michaud
;
Livio Heath
;
Geoff Hutchings
;
Chris Oura
, et al.
소스
Emerging Infectious Diseases, Vol 14, Iss 12, Pp 1870-1874 (2008)
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