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المؤلفون: Athina Ververi, Beverley Bewes, Louise Busby, Natalie Canham, Lily Islam, Caroline Sullivan
المصدر: Cytogenetic and Genome Research. 152:132-136
مصطلحات موضوعية: 0301 basic medicine, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Microcephaly, Ataxia, Genetic counseling, 030105 genetics & heredity, Biology, medicine.disease, 03 medical and health sciences, Angelman syndrome, UBE3A, medicine, Multiplex ligation-dependent probe amplification, medicine.symptom, Allele, Molecular Biology, Genetics (clinical), Aunt
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3ea744a8cb9d4be50ab864760673744fTest
https://doi.org/10.1159/000480030Test -
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المؤلفون: Athina, Ververi, Lily, Islam, Beverley, Bewes, Louise, Busby, Caroline, Sullivan, Natalie, Canham
المصدر: Cytogenetic and genome research. 152(3)
مصطلحات موضوعية: Chromosome Aberrations, Male, Chromosomes, Human, Pair 15, Hypertelorism, Ubiquitin-Protein Ligases, Brachydactyly, Exons, Fingers, Strabismus, Phenotype, Child, Preschool, Intellectual Disability, Humans, Maternal Inheritance, Angelman Syndrome, Alleles, Sequence Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::182938945cd3c2b30f52e7cf727f02d9Test
https://pubmed.ncbi.nlm.nih.gov/28898887Test -
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المؤلفون: Karl Mehnert, Thomas Liehr, John C K Barber, Beverley Bewes, Victoria Hall, Helen E. White, Nicki Foulds, Shuwen Huang, Viv K. Maloney, Marianne Volleth, Mark S. Bateman, Angharad M. Roberts, Angela F. Brady
المصدر: European Journal of Human Genetics. 21:182-189
مصطلحات موضوعية: Adult, Male, Adolescent, DNA Copy Number Variations, Developmental Disabilities, Cell Cycle Proteins, Protein Serine-Threonine Kinases, Biology, Short stature, Article, Structural variation, Chromosome 16, Intellectual Disability, Proto-Oncogene Proteins, Chromosome Duplication, Gene duplication, Genetics, medicine, Humans, Abnormalities, Multiple, Language Development Disorders, Autistic Disorder, Child, Genetics (clinical), Genome, Human, Macrocephaly, Infant, Phenotype, Child, Preschool, Speech delay, Female, medicine.symptom, IGHV@, Haploinsufficiency, Chromosomes, Human, Pair 16
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09442bb7a0a482784002461fd95cfbc7Test
https://doi.org/10.1038/ejhg.2012.144Test -
4
المؤلفون: Beverley Bewes, Viv K. Maloney, John C. K. Barber, Emma Wakeling
المصدر: European Journal of Human Genetics. 14:739-743
مصطلحات موضوعية: Adult, Male, Heterozygote, Adolescent, Biology, Gene mapping, Dosage Compensation, Genetic, Gene density, Genetics, Humans, Abnormalities, Multiple, Gene, Genetics (clinical), Homeodomain Proteins, Dosage compensation, Infant, Chromosome, Syndrome, Phenotype, Molecular biology, Chromosomes, Human, Pair 2, Homeobox, Female, Homeotic gene, Chromosomes, Human, Pair 7, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e22bd2ae2e5e87ffa829bf1f5ff757c4Test
https://doi.org/10.1038/sj.ejhg.5201605Test