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المؤلفون: Gareth Evans, Timur Tuncalı, Miriam J. Smith, Pelin Ertop, Ceren D. Durmaz, Bengü Nisa Akay
المصدر: Cytogenetic and Genome Research. 154:57-61
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Macrocephaly, Nevoid basal-cell carcinoma syndrome, Biology, medicine.disease, Frameshift mutation, Falx cerebri, PTCH2, stomatognathic diseases, 03 medical and health sciences, Frontal Bossing, 030104 developmental biology, 0302 clinical medicine, PTCH1, 030220 oncology & carcinogenesis, Genetics, medicine, medicine.symptom, Keratocyst, Molecular Biology, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5771581a945689e7f87cc5e7bc76fa55Test
https://doi.org/10.1159/000487747Test -
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المؤلفون: F. Chiarelli, Giandomenico Palka, Roberto T. Zori, P. Guanciali Franchi, Valentina Gatta, Chiara Palka, Giuseppe Calabrese, Melissa Alfonsi, Sara Franchi, Elisena Morizio
المصدر: Cytogenetic and Genome Research. 136:1-5
مصطلحات موضوعية: Male, Chromosome 7 (human), Genetics, Microcephaly, Developmental Disabilities, Karyotype, Infant, Trisomy, Biology, medicine.disease, Hypotonia, Frontal Bossing, Gene duplication, medicine, Humans, Abnormalities, Multiple, medicine.symptom, Strabismus, Molecular Biology, Chromosomes, Human, Pair 7, Genetics (clinical), Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ad930c7a030a35f47bd005e4aa54774Test
https://doi.org/10.1159/000334111Test