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1
المؤلفون: Isabella Mammi, Diana Postorivo, Aminta Varricchio, Maria Garzo, Elisa Nalesso, Teresa Mattina, Ilaria Catusi, Maria Paola Recalcati, Laura Cardarelli, Nicola Beltrami, Anna Sajeva, Maria Teresa Bonati, Daniela Giardino, Annapia Verri, Lidia Larizza, Asia Costa, Nicoletta Villa, Anna Maria Nardone
المصدر: European Journal of Medical Genetics. 61:173-180
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Gestational Age, 030105 genetics & heredity, Biology, Molecular cytogenetics, 03 medical and health sciences, Fetus, Chromosome 19, Genetics, medicine, Humans, Abnormalities, Multiple, Supernumerary, Copy-number variation, Small supernumerary marker chromosome, Genetic Association Studies, Genetics (clinical), Chromosome Aberrations, Mosaicism, Cytogenetics, Chromosome, General Medicine, Phenotype, Child, Preschool, Cytogenetic Analysis, Female, Chromosomes, Human, Pair 19
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ee44c49bf4aa6e1d6440e91216290a5Test
https://doi.org/10.1016/j.ejmg.2017.11.007Test -
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المؤلفون: G. Frajese, Giuseppe Novelli, G. Frajese Vanni, O. Scarciolla, L. Baghernajad Salehi, Liborio Stuppia, Anna Maria Nardone
المصدر: European journal of medical genetics. 49(6)
مصطلحات موضوعية: Male, Adolescent, Molecular Sequence Data, Gonadal dysgenesis, Biology, medicine.disease_cause, Frameshift mutation, XY gonadal dysgenesis, Genetics, medicine, Humans, Amino Acid Sequence, Genes, sry, Frameshift Mutation, Genetics (clinical), Gonadal Dysgenesis, 46,XY, Mutation, Base Sequence, Point mutation, General Medicine, DNA, medicine.disease, Stop codon, Sex-Determining Region Y Protein, Testis determining factor, High-mobility group, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1227f89d5d41734078b6ff4822004af8Test
https://pubmed.ncbi.nlm.nih.gov/16675314Test