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1
المؤلفون: Konstantina Merou, Katherine Anagnostopoulou, Michael B. Petersen, Zeynep Tümer, Efi Pandelia, Yolanda Gyftodimou, Catherine Sarri, Haris Kontos, Sofia Douzgou, Elena Giouroukou, Katerina Papanikolaou, Gilbert B. Côté, Maria Grigoriadou, Haris Kokotas
المصدر: Cytogenetic and Genome Research. 145:6-13
مصطلحات موضوعية: Adult, Genetics, Comparative Genomic Hybridization, Ring chromosome, Chromosome, Fish analysis, Biology, Ring (chemistry), Subtelomere, Genetic marker, Chromosomes, Human, Pair 2, Intellectual Disability, Humans, Female, Ring Chromosomes, Multiplex ligation-dependent probe amplification, Chromosome Deletion, Hand Deformities, Congenital, Molecular Biology, Growth Disorders, Genetics (clinical), Follow-Up Studies, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9ad97402ec40549b07dd3a3655ad579Test
https://doi.org/10.1159/000382046Test -
2
المؤلفون: Helen Lord, Efi Pandelia, Louise J. Williams, Catherine Sarri, Michael B. Petersen, Euterpe Bazopoulou-Kyrkanidou, Charlotte Noakes, Yolanda Gyftodimou, Amalia Stefanidou, Andrew O.M. Wilkie, Konstantinos Varvagiannis, Tracy Lester
المصدر: Varvagiannis, K, Stefanidou, A, Gyftodimou, Y, Lord, H, Williams, L, Sarri, C, Pandelia, E, Bazopoulou-Kyrkanidou, E, Noakes, C, Lester, T, Wilkie, A O M & Petersen, M B 2013, ' Pure de novo partial trisomy 6p in a girl with craniosynostosis ', American Journal of Medical Genetics. Part A, vol. 161A, no. 2, pp. 343-351 . https://doi.org/10.1002/ajmg.a.35727Test
مصطلحات موضوعية: Candidate gene, Pathology, medicine.medical_specialty, Developmental Disabilities, Core Binding Factor Alpha 1 Subunit, Trisomy, Craniosynostoses, Biology, Craniosynostosis, Gene Duplication, Gene duplication, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Genetic Association Studies, Genetics (clinical), Fibrous joint, Infant, Newborn, Infant, Chromosome, Syndrome, Anatomy, medicine.disease, Sagittal plane, Radiography, medicine.anatomical_structure, Chromosomes, Human, Pair 6, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2931d06c2ace87b9b201ce550e6ab030Test
http://ora.ox.ac.uk/objects/uuid:6afcfece-7d0b-4e07-afcc-dc99994f01ebTest -
3
المؤلفون: Michael B. Petersen, Yolanda Gyftodimou, Maria Grigoriadou, Haris Kokotas, Efi Pandelia, Catherine Sarri, Kristin Mrasek, S. Kalogirou, Anja Weise
المصدر: Cytogenetic and genome research. 114(3-4)
مصطلحات موضوعية: Genetic Markers, Heart Defects, Congenital, Marker chromosome, Biology, Craniofacial Abnormalities, Gene duplication, Genetics, medicine, Humans, Supernumerary, Abnormalities, Multiple, Child, Molecular Biology, Small supernumerary marker chromosome, Genetics (clinical), In Situ Hybridization, Fluorescence, Chromosome Aberrations, medicine.diagnostic_test, Chromosome, Chromosome Mapping, Karyotype, medicine.disease, Uniparental disomy, Karyotyping, Chromosomes, Human, Pair 6, Female, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51e39ae587158cdee29a0f332f5219dbTest
https://pubmed.ncbi.nlm.nih.gov/16954675Test