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المؤلفون: Richard M. Barber, Cyril Chapman, Fatimah Rahman, Salwati Shuib, Farida Latif, Val Davison, Malgosia Zatyka, Dominic J. McMullan, Eleanor Rattenberry, Eamonn R. Maher, Fiona Macdonald
المصدر: American Journal of Medical Genetics Part A. :2099-2105
مصطلحات موضوعية: Heart Defects, Congenital, Candidate gene, Genotype, Microarray, Gene Dosage, Telecanthus, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Gene mapping, Intellectual Disability, Genetics, medicine, Humans, SNP, Child, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Psychomotor retardation, Gene Expression Profiling, GTPase-Activating Proteins, Syndrome, Penetrance, Phenotype, Chromosome 3, Chromosomes, Human, Pair 3, Chromosome Deletion, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8a3f430104592a7dc748a726acaf3c3Test
https://doi.org/10.1002/ajmg.a.32824Test -
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المؤلفون: Pramila Ramani, Paul Davies, Richard Grundy, Sara Dyer, Emma Prebble, Val Davison, David W. Ellison
المصدر: The American journal of pathology. 161(6)
مصطلحات موضوعية: Ependymoma, Oncology, Adult, Male, medicine.medical_specialty, Pathology, Multivariate analysis, Adolescent, Biology, Chromosomes, Pathology and Forensic Medicine, Internal medicine, medicine, Humans, Pediatric ependymoma, Genetic Testing, Child, Survival rate, Genetic testing, Proportional Hazards Models, Chromosome Aberrations, medicine.diagnostic_test, Proportional hazards model, Brain Neoplasms, Cytogenetics, Infant, Nucleic Acid Hybridization, DNA, Neoplasm, medicine.disease, Survival Rate, Treatment Outcome, Child, Preschool, Female, Chromosome Deletion, Comparative genomic hybridization, Regular Articles
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b046ed6eb2b7dc2166952ff614c1f8a6Test
https://pubmed.ncbi.nlm.nih.gov/12466129Test