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المؤلفون: Roberto Giorda, Davide Tonduti, Ivan Limongelli, Alice Decio, Umberto Balottin, Orsetta Zuffardi, Simona Orcesi, Lorella Caffi, Roberto Ciccone, Anna Pichiecchio, Annalisa Vetro
المصدر: American journal of medical genetics. Part A. (4)
مصطلحات موضوعية: Collagen Type IV, Male, Pathology, medicine.medical_specialty, DNA Mutational Analysis, Compound heterozygosity, Asymptomatic, Leukoencephalopathy, White matter, Epilepsy, Genetics, medicine, Humans, Abnormalities, Multiple, Microhematuria, Child, Genetics (clinical), Genetic Association Studies, Base Sequence, business.industry, Cerebral Palsy, Diplegia, medicine.disease, medicine.icd_9_cm_classification, White Matter, Radiography, medicine.anatomical_structure, Mutation, medicine.symptom, business, Calcification
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90b63f2b1d7e5ec597d71b94e116f9dcTest
https://pubmed.ncbi.nlm.nih.gov/25706114Test -
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المصدر: American journal of medical genetics. Part A. 140(1)
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Gonadoblastoma, Gonadal dysgenesis, Sex Chromosome Disorders, Biology, Y chromosome, Gonadal Dysgenesis, Testicular Neoplasms, Genetics, medicine, Humans, Genetics (clinical), In Situ Hybridization, Fluorescence, Chromosomal inversion, Autosome, Chromosomes, Human, Y, Cytogenetics, Karyotype, Chromosome Breakage, medicine.disease, Chromosome Banding, Testis determining factor, Karyotyping, Chromosome Inversion, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d6b56b5e2e9a738b6d79052d69d82c3Test
https://pubmed.ncbi.nlm.nih.gov/16333824Test