-
1
المؤلفون: Shu Liu, Nuan Chen, Weihong Zeng, Haimei OuYang, Xunjie Xie, Sisi Wei, Zhiqing Wang, Jinqun Liang, Liying Chen, Jianhui Jiang
المصدر: Cytogenetic and Genome Research. 154:201-208
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Gray matter heterotopia, Microcephaly, Pathology, medicine.medical_specialty, Candidate gene, Developmental Disabilities, Ring chromosome, Biology, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Cytogenetic Abnormality, Intellectual disability, Genetics, medicine, Humans, Ring Chromosomes, Gray Matter, Child, Molecular Biology, Genetics (clinical), 10 year follow up, Infant, Karyotype, Middle Aged, medicine.disease, 030104 developmental biology, Child, Preschool, Face, Chromosomes, Human, Pair 6, Female, 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20db7deed22d6effbfddbc3c04ab040cTest
https://doi.org/10.1159/000488692Test -
2
المؤلفون: E. Engels, Soyhan Bagci, Annette M. Müller, Peter Bartmann, Heiko Reutter, E. Wohlleber, A.L. Berner, Ruthild G. Weber
المصدر: Cytogenetic and Genome Research. 136:308-313
مصطلحات موضوعية: Adult, Male, Infertility, Pediatrics, medicine.medical_specialty, Monosomy, Chromosomes, Human, Pair 20, Trisomy, Chromosomal translocation, Biology, Familial translocation, Translocation, Genetic, Chromosome Painting, Miscarriage, Pregnancy, Genetics, medicine, Humans, Abnormalities, Multiple, Molecular Biology, Genetics (clinical), Partial Trisomy, Infant, Karyotype, medicine.disease, Chromosome Banding, Pedigree, Phenotype, Karyotyping, Chromosomes, Human, Pair 6, Female, Chromosome Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aeef29149f46e7a69008db432b495f08Test
https://doi.org/10.1159/000337019Test -
3
المؤلفون: Hildegard Kehrer-Sawatzki, H. Röck, W. Krone, A. Siegel, H. Götz
المصدر: Cytogenetic and Genome Research. 86:28-33
مصطلحات موضوعية: Adult, Male, Monosomy, Time Factors, Loss of Heterozygosity, Stimulation, Biology, Fibroblast growth factor, Cell Line, Nondisjunction, Genetic, Dosage Compensation, Genetic, Genetics, medicine, Humans, Selection, Genetic, Child, Fibroblast, Molecular Biology, Alleles, In Situ Hybridization, Fluorescence, Genetics (clinical), Fibroblast growth factor receptor 2, Chromosome Breakage, Fibroblasts, FGF1, medicine.disease, Molecular biology, In vitro, Clone Cells, medicine.anatomical_structure, Receptors, Androgen, Cell culture, Fibroblast Growth Factor 1, Chromosomes, Human, Pair 6, Female, Fibroblast Growth Factor 2, Cell Division, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9a65faa17f504c6f10cef79897102e5Test
https://doi.org/10.1159/000015424Test -
4
المؤلفون: Emilio Garcia, Reinhilde Thoelen, M. Aly, Koenraad Devriendt, W.J.M. Van de Ven, Peter M.A. Groenen, J. P. Fryns, Eric F.P.M. Schoenmakers
المصدر: Cytogenetic and Genome Research. 75:210-215
مصطلحات موضوعية: Adult, Chromosome Breakpoints, Chromosome Disorders, Chromosomal translocation, Locus (genetics), Hydronephrosis, Biology, Polymerase Chain Reaction, Oligohydramnios, Translocation, Genetic, Gene mapping, Pregnancy, Chromosome 19, Genetics, medicine, Humans, Kidney Pelvis, Lung, Molecular Biology, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome Aberrations, Polycystic Kidney Diseases, medicine.diagnostic_test, Breakpoint, DNA, Fibroblasts, Cosmids, Fetal Diseases, Cosmid, Chromosomes, Human, Pair 6, Female, Ureter, Chromosomes, Human, Pair 19, Ureteral Obstruction, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::718d0c0a91b4361c7412109efa277a29Test
https://doi.org/10.1159/000134485Test