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المؤلفون: Mariann Tihanyi, Anna Lengyel, György Fekete, Irén Haltrich, Dezső David, Kálmán Tory, Zsuzsa Tóth, Eva Pinti, Eszter Jávorszky, Éva Gönczi, Eszter Kiss, Henriett Pikó
المصدر: European journal of medical genetics. 63(10)
مصطلحات موضوعية: 0301 basic medicine, Male, Tomography Scanners, X-Ray Computed, DNA Copy Number Variations, Autism Spectrum Disorder, Developmental Disabilities, 030105 genetics & heredity, 03 medical and health sciences, Chromosome 16, Segmental Duplications, Genomic, Intellectual Disability, Genotype, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Copy-number variation, Obesity, Child, Genetics (clinical), Genetic Association Studies, In Situ Hybridization, Fluorescence, Segmental duplication, Sequence Deletion, Chromosome Aberrations, Hungary, medicine.diagnostic_test, business.industry, Chromosome, Brain, Infant, General Medicine, medicine.disease, Microarray Analysis, Magnetic Resonance Imaging, Doenças Genéticas, 030104 developmental biology, Gene Ontology, Phenotype, Child, Preschool, Autism, Female, business, Chromosomes, Human, Pair 16, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afaad85c76e326d8e35fa8606599cb6bTest
https://pubmed.ncbi.nlm.nih.gov/32758661Test -
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المؤلفون: Hong Pan, Yinan Ma, Zhi Yi, Hairong Wu, Lin Li, Songtao Wang, Yu Qi
المصدر: European Journal of Medical Genetics. 59:347-353
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, China, Pediatrics, medicine.medical_specialty, Adolescent, Methyl-CpG-Binding Protein 2, Developmental Disabilities, MECP2 duplication syndrome, Sex Chromosome Disorders, Prenatal diagnosis, 030105 genetics & heredity, Biology, Asymptomatic, Craniofacial Abnormalities, 03 medical and health sciences, Segmental Duplications, Genomic, Neurodevelopmental disorder, Genes, Duplicate, X Chromosome Inactivation, Intellectual Disability, Chromosome Duplication, Intellectual disability, Gene duplication, Genetics, medicine, Humans, Family history, Child, Genetics (clinical), Comparative Genomic Hybridization, Facies, Infant, Genetic Diseases, X-Linked, General Medicine, medicine.disease, Hypotonia, Pedigree, Phenotype, Child, Preschool, Female, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1f247e8809d58f70499cee673b578f5Test
https://doi.org/10.1016/j.ejmg.2016.05.004Test -
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المؤلفون: Takashi Arai, Minami Yoda, Mitsuru Kubota, Masafumi Yamada, Norikazu Hatano, Nobuhiro Suzuki, Ichiro Kobayashi, Tadashi Ariga, Tsutomu Oishi, Nobuaki Kawamura
المصدر: European Journal of Medical Genetics. 53:383-388
مصطلحات موضوعية: Male, Biology, Granulomatous Disease, Chronic, Contiguous gene syndrome, Young Adult, chemistry.chemical_compound, Segmental Duplications, Genomic, Chronic granulomatous disease, Genetics, Homologous chromosome, medicine, Humans, CYBB, Child, Genetics (clinical), Comparative Genomic Hybridization, Membrane Glycoproteins, Breakpoint, NADPH Oxidases, General Medicine, medicine.disease, Molecular biology, chemistry, NADPH Oxidase 2, Primary immunodeficiency, Chromosome Deletion, Gene Deletion, DNA, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29c1c492ee579e03b5b3e364766744a2Test
https://doi.org/10.1016/j.ejmg.2010.08.003Test -
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المؤلفون: Fabíola Paoli Monteiro, Ilária Cristina Sgardioli, Társis Paiva Vieira, Miriam Coelho Molck, Josiane Souza, Milena Simioni, Vera Lúcia Gil-da-Silva-Lopes, Ana Paula Santos
المصدر: European journal of medical genetics. 56(9)
مصطلحات موضوعية: Male, 22q11.2 deletion, 22q11 Deletion Syndrome, Chromosome Breakpoints, Biology, Genetic Heterogeneity, Multiplex-ligation dependent probe amplification, Segmental Duplications, Genomic, Genetics, Humans, Genetics(clinical), Multiplex ligation-dependent probe amplification, Child, Genetics (clinical), Genetic heterogeneity, Genotype–phenotype correlation, Distal 22q11.2 deletion, Breakpoint, Karyotype, General Medicine, Microdeletion syndrome, Molecular biology, Atypical copy number abnormalities, Phenotype, Child, Preschool, Chromosomal region, Array genomic Hybridization, Female, Chromosome Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83fe455a1653445519d3d5625456fcecTest
https://pubmed.ncbi.nlm.nih.gov/23886712Test