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1دورية أكاديمية
المؤلفون: Aparna Prasad, Matthew A. Sdano, Rena J. Vanzo, Patricia A. Mowery-Rushton, Moises A. Serrano, Charles H. Hensel, E. Robert Wassman
المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-11 (2018)
مصطلحات موضوعية: Homozygosity, Exome sequencing, Diagnostics, Neurodevelopmental disorders, Pathogenic variants, Consanguineous, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Rena J. Vanzo, Aparna Prasad, Lauren Staunch, Charles H. Hensel, Moises A. Serrano, E. Robert Wassman, Alexander Kaplun, Temple Grandin, Richard G. Boles
المصدر: Journal of Personalized Medicine, Vol 11, Iss 1, p 21 (2020)
مصطلحات موضوعية: autism spectrum disorder, genetic testing, chromosomal microarray analysis, whole exome sequencing, whole genome sequencing, clinical utility, Medicine
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Karen S. Ho, E. Robert Wassman, Adrianne L. Baxter, Charles H. Hensel, Megan M. Martin, Aparna Prasad, Hope Twede, Rena J. Vanzo, Merlin G. Butler
المصدر: International Journal of Molecular Sciences, Vol 17, Iss 12, p 2070 (2016)
مصطلحات موضوعية: chromosomal microarray, copy number variants, neurodevelopmental disorders, autism spectrum disorder, variants of unknown significance, FirstStepDx PLUS, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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4
المؤلفون: William B. Dobyns, Susan Winter, Ryan N. Traylor, Rena J. Vanzo, Julie S. Cohen, Martin G. Bialer, Eric D. Marsh, Blake C. Ballif, Alex R. Paciorkowski, Ali Fatemi, Yves Lacassie, Roger A. Schultz, Brenda E. Porter, Jacqueline M. Hoover, Elizabeth Berry-Kravis, Anu Venkat, Jill A. Rosenfeld, Catharine J. Harris, Allen N. Lamb, Lisa G. Shaffer, Marni J. Falk
المصدر: Neurogenetics. 14(2)
مصطلحات موضوعية: Adult, Male, Adolescent, Developmental Disabilities, Haploinsufficiency, Hyperkinesis, Article, MECP2, Cellular and Molecular Neuroscience, Epilepsy, Mice, Young Adult, Neurodevelopmental disorder, Interneurons, Intellectual disability, Genetics, medicine, Animals, Humans, Child, Genetics (clinical), biology, MEF2 Transcription Factors, Infant, Middle Aged, medicine.disease, Mice, Inbred C57BL, Phenotype, nervous system, Child, Preschool, Forebrain, biology.protein, Female, TBR1, Nerve Net, Neuroscience, Gene Deletion
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المؤلفون: Stephen C. Gammie, Sharon A. Stevenson, Heather M. Jessen, Anthony P. Auger, Rena J. Vanzo, Tarif Awad
مصطلحات موضوعية: Central Nervous System, Candidate gene, medicine.medical_specialty, Microarray, Neuropeptide Y receptor Y2, Protein Array Analysis, Nerve Tissue Proteins, Biology, Article, Behavioral Neuroscience, Mice, Neurotransmitter receptor, Internal medicine, Gene expression, Genetics, medicine, Animals, Selection, Genetic, Maternal Behavior, Gene, Gene Expression Profiling, Molecular biology, Gene expression profiling, Preoptic area, Aggression, Endocrinology, Neurology, RNA, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ac79a3f7ebcbee26c7a73cc18934931
https://europepmc.org/articles/PMC1994650/