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Human Genetics|January 21, 2021
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrumAngèle Tingaud-Sequeira, Aurélien Trimouille, Manju Salaria, et al.Genes|July 27, 2022
The Dct Mouse Model to Unravel Retinogenesis Misregulation in Patients with AlbinismAngèle Tingaud-Sequeira, Elina Mercier, Vincent Michaud, et al.Pigment Cell & Melanoma Research|July 21, 2020
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndromePerrine Pennamen, Angèle Tingaud-Sequeira, Vincent Michaud, et al.Journal of Medical Genetics|July 1, 2016
Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVSEstelle Lopez, Marie Berenguer, Angèle Tingaud-Sequeira, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2020
Dopachrome tautomerase variants in patients with oculocutaneous albinismPerrine Pennamen, Angèle Tingaud-Sequeira, Iveta Gazova, et al.Neurobiology of Disease|November 29, 2016
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARCAngèle Tingaud-Sequeira, Demetrio Raldúa, Julie Lavie, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2020
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndromePerrine Pennamen, Linh Le, Angèle Tingaud-Sequeira, et al.BMC Genomics|November 1, 2008
Genomic resources for a commercial flatfish, the Senegalese sole (Solea senegalensis): EST sequencing, oligo microarray design, and development of the Soleamold bioinformatic platformJoan Cerdà, Jaume Mercadé, Juan José Lozano, et al.Journal of Medical Genetics|November 11, 2022
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrumTristan Celse, Angèle Tingaud-Sequeira, Klaus Dieterich, et al.Pageof 3