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المؤلفون: Vincent Michaud, Claudio Plaisant, Caroline Rooryck, Fanny Morice-Picard, Eulalie Lasseaux, Didier Lacombe, Benoit Arveiler, Laetitia Gaston, Perrine Pennamen, Aurélien Trimouille, Solene Monfermé
المصدر: Pigment Cell & Melanoma Research. 31:466-474
مصطلحات موضوعية: Male, 0301 basic medicine, Albinism, Dermatology, Disease, Biology, General Biochemistry, Genetics and Molecular Biology, DNA sequencing, 03 medical and health sciences, medicine, Humans, Allele, Alleles, Hypopigmentation, Gene Rearrangement, Genetics, Comparative Genomic Hybridization, Genetic heterogeneity, High-Throughput Nucleotide Sequencing, medicine.disease, Hypoplasia, 030104 developmental biology, Molecular Diagnostic Techniques, Oncology, Female, medicine.symptom, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7af4eb349b08fcd2de805d5d08d0964Test
https://doi.org/10.1111/pcmr.12688Test -
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المؤلفون: Aurélien Trimouille, Jean-Madeleine de Sainte Agathe, Eulalie Lasseaux, Didier Lacombe, Benoit Arveiler, Virginie Raclet, Jerome Aupy, Laetitia Gaston, Claudio Plaisant, Julien Van-Gils, Clémence Pfirrmann
المصدر: European Journal of Medical Genetics. 63:103942
مصطلحات موضوعية: Genetics, Epilepsy, business.industry, Intellectual disability, medicine, Missense mutation, General Medicine, medicine.disease, business, Phenotype, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::189cd1d2a2c2e35101cf9a8ec5047347Test
https://doi.org/10.1016/j.ejmg.2020.103942Test