المؤلفون: Feyza Yilmaz, Umamaheswaran Gurusamy, Trenell J. Mosley, Pille Hallast, Kwondo Kim, Yulia Mostovoy, Ryan H. Purcell, Tamim H. Shaikh, Michael E. Zwick, Pui-Yan Kwok, Charles Lee, Jennifer G. Mulle

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-17 (2023)

مصطلحات موضوعية: 3q29, Structural variations, Genomic disorders, Schizophrenia, NAHR, Copy number variant(s), Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1756-994XTest

الوصول الحر: https://doaj.org/article/e1441505fb324218b0dd9286ccd86457Test

المؤلفون: Alyssa S. Wetzel, Benjamin W. Darbro

المصدر: BMC Genomic Data, Vol 23, Iss 1, Pp 1-3 (2022)

مصطلحات موضوعية: Copy number variant, Microdeletion, Microduplication, Microduplication/microdeletion disorders, Genomic disorders, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2730-6844Test

الوصول الحر: https://doaj.org/article/11d5a9290fc4459481bcf3b716e9e31cTest

المؤلفون: Nora Urraca, Kevin Hope, A. Kaitlyn Victor, T. Grant Belgard, Rawaha Memon, Sarita Goorha, Colleen Valdez, Quynh T. Tran, Silvia Sanchez, Juanma Ramirez, Martin Donaldson, Dave Bridges, Lawrence T. Reiter

المصدر: Molecular Autism, Vol 9, Iss 1, Pp 1-16 (2018)

مصطلحات موضوعية: Stem cells, Autism, Genomic disorders, Neurogenetic syndrome, mRNAseq, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13229-018-0191-yTest; https://doaj.org/toc/2040-2392Test

الوصول الحر: https://doaj.org/article/a05b1471620e4455bbdd728d00816017Test

المؤلفون: Jeroen van Reeuwijk, Martin Oti, Han G Brunner, Martijn A. Huynen

المصدر: BMC Bioinformatics, Vol 9, Iss 1, p 208 (2008)
BMC Bioinformatics, 9
BMC Bioinformatics

مصطلحات موضوعية: Candidate gene, Genetics and epigenetic pathways of disease [NCMLS 6], Gene Dosage, Gene Expression, Penetrance, Biochemistry, Conserved sequence, Mice, Metabolism, transport and motion [NCMLS 2], Gene Frequency, Structural Biology, Databases, Genetic, Disease, lcsh:QH301-705.5, Conserved Sequence, Oligonucleotide Array Sequence Analysis, Genetics, biology, Applied Mathematics, Methodology Article, Computer Science Applications, Drosophila melanogaster, Mitochondrial medicine [IGMD 8], lcsh:R858-859.7, DNA microarray, Energy and redox metabolism [NCMLS 4], Computational biology, Saccharomyces cerevisiae, lcsh:Computer applications to medicine. Medical informatics, Gene dosage, Evolution, Molecular, Genomic disorders and inherited multi-system disorders [IGMD 3], Species Specificity, Predictive Value of Tests, Animals, Humans, Genetic Predisposition to Disease, Caenorhabditis elegans, Molecular Biology, Base Sequence, Gene Expression Profiling, biology.organism_classification, Gene expression profiling, Genetic defects of metabolism [UMCN 5.1], lcsh:Biology (General), Sample Size, Human genome, Candidate Disease Gene, Cellular energy metabolism [UMCN 5.3], Immunity, infection and tissue repair [NCMLS 1]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9ca8280797500d0d2e5410f7110eeb4Test
http://www.biomedcentral.com/1471-2105/9/208Test