المؤلفون: L. Fares Taie, Brigitte Nedelec, Jean-Michel Rozet

المصدر: Human Genetics. 138:937-955

مصطلحات موضوعية: Genotype, genetic structures, Vitamin A transport, ved/biology.organism_classification_rank.species, Retinoic acid, Tretinoin, Biology, Eye, 03 medical and health sciences, chemistry.chemical_compound, Genetics, Animals, Humans, Model organism, Gene, Genetics (clinical), 030304 developmental biology, Homeodomain Proteins, 0303 health sciences, ved/biology, 030305 genetics & heredity, Gene Expression Regulation, Developmental, Phenotype, eye diseases, Genetic architecture, Human genetics, chemistry, Eye development, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d862e7993b8ed80f47881bd647d751e9
https://doi.org/10.1007/s00439-019-02052-2

المؤلفون: C. Angebault Prouteau, P.O. Guichet, Y. Talmat-Amar, M. Charif, S. Gerber, L. Fares-Taie, N. Guegen, F. Halloy, D. Moore, P. Amati-Bonneau, G. Manes, M. Hebrard, B. Bocquet, M. Quiles, C. Piro-Mégy, M. Teigell, C. Delettre, M. Rossel, I. Meunier, M. Preising, B. Lorenz, V. Carelli, P.F. Chinnery, P. Yu-Wai-Man, J. Kaplan, A. Roubertie, A. Barakat, D. Bonneau, P. Reynier, J.M. Rozet, P. Bomont, C. Hamel, G. Lenaers

المصدر: American journal of human genetics

مصطلحات موضوعية: Blindness/etiology, inherited optic neuropathy

Relation: http://okina.univ-angers.fr/publications/ua14258

الاتاحة: http://okina.univ-angers.fr/publications/ua14258
https://doi.org/10.1016/j.ajhg.2015.09.012

المؤلفون: Eduardo F. Tizzano, M. Baena, A. Venceslá, Montserrat Baiget, L. Fares Taie, M. Cornet

المصدر: Haemophilia : the official journal of the World Federation of Hemophilia. 14(3)

مصطلحات موضوعية: Combined use, Haemophilia A, Biology, Haemophilia, Hemophilia A, Polymerase Chain Reaction, Loss of heterozygosity, Gene Frequency, Pregnancy, Prenatal Diagnosis, medicine, Humans, Dinucleotide Repeats, Gene, Genetics (clinical), X chromosome, Genetics, Chromosomes, Human, X, Factor VIII, Base Sequence, Genetic Carrier Screening, Intron, Hematology, General Medicine, medicine.disease, Dinucleotide Repeat, Molecular biology, Introns, Spain, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0873da850a160a502d45381069599e87
https://pubmed.ncbi.nlm.nih.gov/18384354