Y. Perdomo-Trujillo

发表

Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral Ectopia Lentis

H. Dollfus, C. Boileau, J. Dufier, 2010, Ophthalmic genetics.

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders

J. Sahel, C. Jubin, T. de Ravel, 2019, Human mutation.

Clinico‐molecular analysis of eleven patients with Hermansky–Pudlak type 5 syndrome, a mild form of HPS

P. Fergelot, P. Jouk, A. Verloes, 2017, Pigment cell & melanoma research.

Sequencing Analysis of the ATOH7 Gene in Individuals with Optic Nerve Hypoplasia

James T. Elder, G. Gole, D. Mackey, 2014, Ophthalmic genetics.

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

M. Koenig, R. Touraine, M. Claustres, 2017, Scientific Reports.

Albinism in a patient with mutations at both the OA1 and OCA3 loci

D. Lipsker, C. Rooryck, D. Lacombe, 2016, Pigment cell & melanoma research.

Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

N. Katsanis, A. Toutain, C. Redin, 2011, Molecular Syndromology.

[Melanoma associated retinopathy: A case report].

C. Speeg-Schatz, A. Sauer, J. Keppi, 2016, Journal francais d'ophtalmologie.

Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral Ectopia Lentis

H. Dollfus, C. Boileau, J. Dufier, 2010, Ophthalmic Genetics.