المؤلفون: Gregory Costain, Susan Walker, Bob Argiropoulos, Danielle A. Baribeau, Anne S. Bassett, Erik Boot, Koen Devriendt, Barbara Kellam, Christian R. Marshall, Aparna Prasad, Moises A. Serrano, D. James Stavropoulos, Hope Twede, Joris R. Vermeesch, Jacob A. S. Vorstman, Stephen W. Scherer

المصدر: Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Copy number variation, Genome sequencing, Autism, ADHD, DMXL2, GRIK5, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s11689-019-9263-3; https://doaj.org/toc/1866-1947; https://doaj.org/toc/1866-1955

URL الوصول: https://doaj.org/article/6593be5fa35b44bd98744295b24e8adb

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

Relation: http://www.mdpi.com/1422-0067/17/12/2070; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/2330efd86d5e43a294040be62ec7a272

المؤلفون: Rebecca Mieloszyk, Hope Twede, Jonathan Lester, Jeremiah Wander, Sumit Basu, Gabe Cohn, Greg Smith, Dan Morris, Sidhant Gupta, Desney Tan, Nicolas Villar, Moni Wolf, Sailaja Malladi, Matt Mickelson, Lauren Ryan, Lindsey Kim, Jeffrey Kepple, Susanne Kirchner, Emma Wampler, Riena Terada, Joel Robinson, Ron Paulsen, T. Scott Saponas

المصدر: IEEE Journal of Biomedical and Health Informatics. 26:2864-2875

مصطلحات موضوعية: Male, Manometry, Blood Pressure, Blood Pressure Determination, Health Informatics, Computer Science Applications, Electrocardiography, Wearable Electronic Devices, Health Information Management, Hypertension, Humans, Female, Electrical and Electronic Engineering, Photoplethysmography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae509edab4c518739cc77264351fb2b7
https://doi.org/10.1109/jbhi.2022.3153259

المؤلفون: Koen Devriendt, Danielle A. Baribeau, Barbara Kellam, Bob Argiropoulos, Moises A. Serrano, Stephen W. Scherer, Christian R. Marshall, D James Stavropoulos, Hope Twede, Anne S. Bassett, Jacob A. S. Vorstman, Gregory Costain, Susan Walker, Joris Vermeesch, Erik Boot, Aparna Prasad

المصدر: Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-10 (2019)
Journal of Neurodevelopmental Disorders

مصطلحات موضوعية: Adult, Male, DNA Copy Number Variations, Autism Spectrum Disorder, Cognitive Neuroscience, Autism, Pedigree chart, Nerve Tissue Proteins, Genome sequencing, Pathology and Forensic Medicine, lcsh:RC321-571, 03 medical and health sciences, 0302 clinical medicine, GRIK5, medicine, Missense mutation, Humans, ADHD, 0501 psychology and cognitive sciences, Copy-number variation, Child, Gene, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Adaptor Proteins, Signal Transducing, Genetics, biology, Whole Genome Sequencing, Copy number variation, Research, 05 social sciences, Middle Aged, medicine.disease, Human genetics, Pedigree, Autism spectrum disorder, Neurodevelopmental Disorders, Pediatrics, Perinatology and Child Health, biology.protein, Female, Neurology (clinical), DMXL2, 030217 neurology & neurosurgery, 050104 developmental & child psychology

وصف الملف: Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1846abc3912169413ceac0e243b00321
http://link.springer.com/article/10.1186/s11689-019-9263-3

المؤلفون: Aparna Prasad, Megan M. Martin, E. Robert Wassman, Rena Vanzo, Sarah T. South, Karen S. Ho, Hope Twede

المصدر: European Journal of Medical Genetics. 62:15-20

مصطلحات موضوعية: DNA Copy Number Variations, medicine.diagnostic_test, Autism Spectrum Disorder, business.industry, Microarray analysis techniques, Cerebral Palsy, Tumor Suppressor Proteins, Locus (genetics), General Medicine, Genome browser, medicine.disease, Bioinformatics, Cytoskeletal Proteins, Autism spectrum disorder, Genetics, medicine, Humans, Coding region, Clinical significance, Copy-number variation, business, Genetics (clinical), Adaptor Proteins, Signal Transducing, Genome-Wide Association Study, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26e639a5b950594bb1c0725e00ebe3a1
https://doi.org/10.1016/j.ejmg.2018.04.012

المؤلفون: Karen S. Ho, Leah M. Markham, Hope Twede, Amanda Lortz, Lenora M. Olson, Xiaoming Sheng, Cindy Weng, E. Robert Wassman, Tara Newcomb, John C. Carey, Agatino Battaglia

المصدر: Epilepsy & Behavior. 81:55-61

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Phenytoin, Pediatrics, medicine.medical_specialty, Levetiracetam, Adolescent, medicine.medical_treatment, Oxcarbazepine, Lamotrigine, Young Adult, 03 medical and health sciences, Behavioral Neuroscience, Epilepsy, 0302 clinical medicine, Seizures, Topiramate, medicine, Humans, Child, Wolf-Hirschhorn Syndrome, business.industry, Infant, Carbamazepine, Middle Aged, medicine.disease, Clonazepam, 030104 developmental biology, Anticonvulsant, Neurology, Child, Preschool, Phenobarbital, Clobazam, Quality of Life, Anticonvulsants, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8533f49f2f0d7efbfaa064c93a21795
https://doi.org/10.1016/j.yebeh.2017.12.008

المؤلفون: Ling Ling, Solange M. Aliaga, Minh Bui, Hope Twede, Rena Vanzo, Michael H. Field, David Francis, David J. Amor, David E. Godler, Jonathon W. Morison, Megan M. Martin, Charles H. Hensel

المصدر: Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Developmental Disabilities, Population, lcsh:Medicine, 030105 genetics & heredity, Article, Andrology, Cohort Studies, 03 medical and health sciences, Fragile X Mental Retardation Protein, Young Adult, Genetics research, medicine, Humans, Allele, education, lcsh:Science, Child, Alleles, education.field_of_study, Multidisciplinary, business.industry, lcsh:R, Infant, Diagnostic markers, Methylation, DNA Methylation, medicine.disease, FMR1, United States, Fragile X syndrome, 030104 developmental biology, Child, Preschool, Fragile X Syndrome, DNA methylation, Mutation, lcsh:Q, Female, Trinucleotide repeat expansion, business, Trinucleotide Repeat Expansion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df9e1ab00d0685ce81ca9608555dcf91
https://pubmed.ncbi.nlm.nih.gov/31653898

المؤلفون: Aparna Prasad, Hope Twede, Karen S. Ho, Stephanie Page, Kyle W. Davis, E. Robert Wassman, Moises A. Serrano, Andreas Peiffer, Megan M. Martin, Diana Bertrand, Mohammed Uddin, Stephen W. Scherer, Rena Vanzo, Charles H. Hensel

المصدر: Neurology: Genetics

مصطلحات موضوعية: 0303 health sciences, Microarray analysis techniques, Computational biology, Random series, Clinical literature, Biology, Article, 03 medical and health sciences, Exon, 0302 clinical medicine, Unknown Significance, Clinical significance, Neurology (clinical), Copy-number variation, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0644ba70a354a0029a1e458cbe60b22
https://doi.org/10.1212/nxg.0000000000000378

المؤلفون: Moises A. Serrano, Rena Vanzo, Karen S. Ho, Megan M. Martin, Hope Twede, E. Robert Wassman, Patricia Mowery-Rushton, Stephanie Page, Erin Harward, Andreas Peiffer, Charles H. Hensel

المصدر: BioMed Research International, Vol 2016 (2016)
BioMed Research International

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Article Subject, Microarray, Adolescent, Autism Spectrum Disorder, Developmental Disabilities, Gene Dosage, lcsh:Medicine, General Biochemistry, Genetics and Molecular Biology, Chromosomes, Cohort Studies, 03 medical and health sciences, Young Adult, Intellectual Disability, Intellectual disability, mental disorders, medicine, Chromosomes, Human, Humans, Copy-number variation, Child, Oligonucleotide Array Sequence Analysis, Chromosome Aberrations, General Immunology and Microbiology, business.industry, Clinical Laboratory Techniques, lcsh:R, Genetic Variation, General Medicine, medicine.disease, 030104 developmental biology, Ultrahigh resolution, Autism spectrum disorder, Neurodevelopmental Disorders, Child, Preschool, Karyotyping, Cohort, Etiology, Female, business, Cohort study, Research Article

وصف الملف: text/xhtml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee2f1cd1548a295f4cd8b2471d1d9d85
https://doaj.org/article/b0ac558de9a24d41883c9f5834edfb7f