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1دورية أكاديمية
المؤلفون: Kyle W. Davis, Colleen G. Bilancia, Megan Martin, Rena Vanzo, Megan Rimmasch, Yolanda Hom, Mohammed Uddin, Moises A. Serrano
المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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2دورية أكاديمية
المؤلفون: John Peabody, Megan Martin, Lisa DeMaria, Jhiedon Florentino, David Paculdo, Michael Paul, Rena Vanzo, E Robert Wassman, Trever Burgon
المصدر: PLoS ONE, Vol 11, Iss 12, p e0169064 (2016)
وصف الملف: electronic resource
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المؤلفون: Michael S. Paul, Vickie L. Hannig, Anna Bican, John H. Newman, Joy D. Cogan, Thomas Morgan, Laura Duncan, Jessica Duis, Rena Vanzo, Rizwan Hamid, Jean P. Pfotenhauer, Mary Koziura, John A. Phillips, Kendall J. Burdick, Elly Brokamp, Lynette Rives, Amy K. Robertson
المصدر: Am J Med Genet A
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, 030105 genetics & heredity, Bioinformatics, Undiagnosed Diseases, Article, DNA sequencing, 03 medical and health sciences, Rare Diseases, Exome Sequencing, Genetics, Humans, Medicine, Exome, Genetic Predisposition to Disease, Genetic Testing, Copy-number variation, Medical diagnosis, Genetics (clinical), Exome sequencing, Genetic testing, Whole Genome Sequencing, medicine.diagnostic_test, business.industry, 030104 developmental biology, Medical genetics, business, Trinucleotide repeat expansion
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المؤلفون: Aparna Prasad, Richard G. Boles, Temple Grandin, Charles H. Hensel, E. Robert Wassman, Alexander Kaplun, Moises A. Serrano, Lauren Staunch, Rena Vanzo
المصدر: Journal of Personalized Medicine, Vol 11, Iss 21, p 21 (2021)
Journal of Personalized Medicineمصطلحات موضوعية: Medicine (miscellaneous), clinical utility, lcsh:Medicine, Case Report, autism spectrum disorder, Computational biology, Biology, Genome, genetic testing, whole exome sequencing, 03 medical and health sciences, 0302 clinical medicine, mental disorders, medicine, Family history, Exome sequencing, 030304 developmental biology, Genetic testing, Whole genome sequencing, 0303 health sciences, whole genome sequencing, medicine.diagnostic_test, lcsh:R, medicine.disease, Temple Grandin, High-functioning autism, polygenic risk scores, Autism spectrum disorder, chromosomal microarray analysis, Autism, 030217 neurology & neurosurgery
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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
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المؤلفون: Moises A. Serrano, Hom Y, Rena Vanzo, Bilancia Cg, Davis Kw, Megan M. Martin, Mohammed Uddin, Rimmasch M
مصطلحات موضوعية: Candidate gene, Microarray, Neuron projection, OMIM : Online Mendelian Inheritance in Man, Computational biology, Copy-number variation, Biology, Genome, Phenotype, Gene
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::708827c17e1945c0071693ee645045ed
https://doi.org/10.1101/2021.02.04.429640 -
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المؤلفون: Yolanda Hom, Kyle W. Davis, Megan M. Martin, Mohammed Uddin, Moises A. Serrano, Colleen Bilancia, Megan Rimmasch, Rena Vanzo
المصدر: Molecular Genetics and Metabolism. 132:S263-S264
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Central nervous system, Computational biology, Disease, Biology, Omics, Biochemistry, Genome, Endocrinology, medicine.anatomical_structure, Genetics, medicine, Molecular Biology, Gene
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المؤلفون: Megan Rimmasch, Colleen Bilancia, Jullianne Diaz, Rena Vanzo
المصدر: Molecular Genetics and Metabolism. 132:S234-S235
مصطلحات موضوعية: Physics, Genetics, Endocrinology, Testis determining factor, Potential risk, Endocrinology, Diabetes and Metabolism, Chromosomal translocation, Molecular Biology, Biochemistry, Inversion (discrete mathematics)
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9
المؤلفون: Patricia Mowery-Rushton, E. Robert Wassman, Charles H. Hensel, Moises A. Serrano, Matthew A. Sdano, Aparna Prasad, Rena Vanzo
المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-11 (2018)
BMC Medical Geneticsمصطلحات موضوعية: 0301 basic medicine, Male, Exome sequencing, Microcephaly, Autism Spectrum Disorder, Developmental Disabilities, Runs of Homozygosity, Compound heterozygosity, Aminopeptidases, Mitochondrial Membrane Transport Proteins, Homozygosity, Cohort Studies, Consanguinity, 0302 clinical medicine, Clinical utility of genetic testing, Consanguineous, Copy-number variation, Child, Diagnostics, Genetics (clinical), Genetics, Tripeptidyl-Peptidase 1, Homozygote, Neurodevelopmental disorders, Pathogenic variants, Phenotype, Potassium Channels, Voltage-Gated, Child, Preschool, Female, Research Article, lcsh:Internal medicine, Adolescent, DNA Copy Number Variations, lcsh:QH426-470, Single-nucleotide polymorphism, Biology, Runs of homozygosity, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, Intellectual Disability, Absence of heterozygosity, medicine, Humans, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, lcsh:RC31-1245, Diagnostic Tests, Routine, Infant, NADH Dehydrogenase, Sequence Analysis, DNA, medicine.disease, Microarray Analysis, Human genetics, lcsh:Genetics, 030104 developmental biology, Long contiguous stretches of homozygosity, Shaker Superfamily of Potassium Channels, Amino Acid Transport Systems, Basic, Serine Proteases, 030217 neurology & neurosurgery
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المؤلفون: Arndt Rolfs, Douglas R. Smith, Hongjie Yuan, Markus Wolff, Eirik Frengen, Sarah E Parisotto, Mark A. Tarnopolsky, John Millichap, Katherine L. Helbig, Christian Korff, Lutz Dondit, Anna-Elina Lehesjoki, Alison M. Muir, Brad T. Tinkle, Heather C Mefford, Bodo Laube, Anne T. Berg, Wen-Hann Tan, Kelly L. Jones, Floor E. Jansen, Christine M. Stanley, Candace T. Myers, Isabelle De Bie, John A. Lawson, Henrike O. Heyne, Wenjuan Chen, David Neal Franz, Julie R. Jones, Elysa J. Marco, Nataliya Di Donato, Cyril Mignot, Jasper J. van der Smagt, Stephen F. Traynelis, Tarja Linnankivi, Tim M. Strom, Hirofumi Kusumoto, Rena Vanzo, Petter Strømme, Uffe Birk Jensen, Amy Lacroix, Darius J Adams, Chun Hu, Boris Keren, Sha Tang, Richard J. Leventer, Johannes R. Lemke, Levinus A. Bok, Helio Pedro, Rami Abou Jamra, Dianalee McKnight, Ethan M. Goldberg, Tony Roscioli, Lauren Brady, Konrad Platzer, Philippe Major, Amy Decker, Anup D. Patel, Marcia C. Willing, Ingrid E. Scheffer, Mark Mintz, Eva H. Brilstra, Carolina Courage, Lynette G. Sadleir, Alexander Winschel, William B. Dobyns, Stephanie Fox, Emmanuelle Ranza, Saskia Biskup, Dennis Döcker, Judith D. Ranells, Rikke S. Møller, Elaine H. Zackai, Hannah Schütz, Mieke M. van Haelst, Christel Depienne
المساهمون: Medicum, Research Programme for Molecular Neurology, Department of Medical and Clinical Genetics, Research Programs Unit, Neuroscience Center, Anna-Elina Lehesjoki / Principal Investigator, University of Helsinki, Children's Hospital, Clinicum, Lastenneurologian yksikkö, HUS Children and Adolescents, Amsterdam Reproduction & Development (AR&D), Human genetics, Amsterdam Neuroscience - Complex Trait Genetics
المصدر: Journal of Medical Genetics, 54(7), 460. BMJ Publishing Group
Journal of Medical Genetics, 54(7), 460-470. BMJ Publishing Group
J. Med. Genet. 54, 460-470 (2017)
Platzer, K, Yuan, H, Schuetz, H, Winschel, A, Chen, W, Hu, C, Kusumoto, H, Heyne, H O, Helbig, K L, Tang, S, Willing, M C, Tinkle, B T, Adams, D J, Depienne, C, Keren, B, Mignot, C, Frengen, E, Stromme, P, Biskup, S, Doecker, D, Strom, T M, Mefford, H C, Myers, C T, Muir, A M, LaCroix, A, Sadleir, L, Scheffer, I E, Brilstra, E, van Haelst, M M, van der Smagt, J J, Bok, L A, Moller, R S, Jensen, U B, Millichap, J J, Berg, A T, Goldberg, E M, De Bie, I, Fox, S, Major, P, Jones, J R, Zackai, E H, Abou Jamra, R, Rolfs, A, Leventer, R J, Lawson, J A, Roscioli, T, Jansen, F E, Ranza, E, Korff, C M, Lehesjoki, A-E, Courage, C, Linnankivi, T, Smith, D R, Stanley, C, Mintz, M, McKnight, D, Decker, A, Tan, W-H, Tarnopolsky, M A, Brady, L I, Wolff, M, Dondit, L, Pedro, H F, Parisotto, S E, Jones, K L, Patel, A D, Franz, D N, Vanzo, R, Marco, E, Ranells, J D, Di Donato, N, Dobyns, W B, Laube, B, Traynelis, S F & Lemke, J R 2017, ' GRIN2B encephalopathy : novel findings on phenotype, variant clustering, functional consequences and treatment aspects ', Journal of Medical Genetics, vol. 54, no. 7, pp. 460-470 . https://doi.org/10.1136/jmedgenet-2016-104509
Platzer, K, Yuan, H, Schütz, H, Winschel, A, Chen, W, Hu, C, Kusumoto, H, Heyne, H O, Helbig, K L, Tang, S, Willing, M C, Tinkle, B T, Adams, D J, Depienne, C, Keren, B, Mignot, C, Frengen, E, Strømme, P, Biskup, S, Döcker, D, Strom, T M, Mefford, H C, Myers, C T, Muir, A M, LaCroix, A, Sadleir, L, Scheffer, I E, Brilstra, E, van Haelst, M M, van der Smagt, J J, Bok, L A, Møller, R S, Jensen, U B, Millichap, J J, Berg, A T, Goldberg, E M, De Bie, I, Fox, S, Major, P, Jones, J R, Zackai, E H, Abou Jamra, R, Rolfs, A, Leventer, R J, Lawson, J A, Roscioli, T, Jansen, F E, Ranza, E, Korff, C M, Lehesjoki, A E, Courage, C, Linnankivi, T, Smith, D R, Stanley, C, Mintz, M, McKnight, D, Decker, A, Tan, W H, Tarnopolsky, M A, Brady, L I, Wolff, M, Dondit, L, Pedro, H F, Parisotto, S E, Jones, K L, Patel, A D, Franz, D N, Vanzo, R, Marco, E, Ranells, J D, Di Donato, N, Dobyns, W B, Laube, B, Traynelis, S F & Lemke, J R 2017, ' GRIN2B encephalopathy : Novel findings on phenotype, variant clustering, functional consequences and treatment aspects ', Journal of Medical Genetics, vol. 54, no. 7, pp. 460-470 . https://doi.org/10.1136/jmedgenet-2016-104509
Journal of Medical Genetics, Vol. 54, No 7 (2017) pp. 460-470
Platzer, K, Yuan, H, Schütz, H, Winschel, A, Chen, W, Hu, C, Kusumoto, H, Heyne, H O, Helbig, K L, Tang, S, Willing, M C, Tinkle, B T, Adams, D J, Depienne, C, Keren, B, Mignot, C, Frengen, E, Strømme, P, Biskup, S, Döcker, D, Strom, T M, Mefford, H C, Myers, C T, Muir, A M, LaCroix, A J, Sadleir, L G, Scheffer, I E, Brilstra, E, van Haelst, M M, van der Smagt, J J, Bok, L A, Møller, R S, Jensen, U B, Millichap, J J, Berg, A T, Goldberg, E M, De Bie, I, Fox, S, Major, P, Jones, J R, Zackai, E H, Abou Jamra, R, Rolfs, A, Leventer, R J, Lawson, J A, Roscioli, T, Jansen, F E, Ranza, E, Korff, C M, Lehesjoki, A-E, Courage, C, Linnankivi, T, Smith, D R, Stanley, C, Mintz, M, McKnight, D, Decker, A, Tan, W-H, Tarnopolsky, M A, Brady, L I, Wolff, M, Dondit, L, Pedro, H F, Parisotto, S E, Jones, K L, Patel, A D, Franz, D N, Vanzo, R, Marco, E, Ranells, J D, Di Donato, N, Dobyns, W B, Laube, B, Traynelis, S F & Lemke, J R 2017, ' GRIN2B encephalopathy : novel findings on phenotype, variant clustering, functional consequences and treatment aspects ', Journal of Medical Genetics, vol. 54, no. 7, pp. 460-470 . https://doi.org/10.1136/jmedgenet-2016-104509مصطلحات موضوعية: 0301 basic medicine, INTELLECTUAL DISABILITY, Brain Diseases/drug therapy/genetics, Pathogenic GRIN2B mutations, AUTISM SPECTRUM DISORDERS, Cortical visual impairment, Bioinformatics, Clustering of missense variants, 3124 Neurology and psychiatry, Epilepsy, 0302 clinical medicine, Channelopathy, NMDA RECEPTORS, Receptors, Intellectual disability, Polymicrogyria, Genetics(clinical), Molecular Targeted Therapy, Genetics (clinical), ddc:618, biology, Epileptic encephalopathy, Precision medicine, 1184 Genetics, developmental biology, physiology, Magnetic Resonance Imaging, Memantine/therapeutic use, Hypotonia, 3. Good health, N-Methyl-D-Aspartate/antagonists & inhibitors/genetics/metabolism, Phenotype, medicine.symptom, Heterozygote, GENES, Mutation/genetics, MIGRATION, Clustering Of Missense Variants, Epileptic Encephalopathy, Pathogenic Grin2b Mutations, Precision Medicine, Encephalopathy, Neuroimaging, Article, 03 medical and health sciences, Journal Article, Genetics, medicine, Humans, NEURODEVELOPMENTAL DISORDERS, business.industry, 3112 Neurosciences, medicine.disease, INDIVIDUALS, 030104 developmental biology, DE-NOVO MUTATIONS, FOCAL EPILEPSY, SUBUNIT, biology.protein, Autism, GRIN2B, 3111 Biomedicine, business, 030217 neurology & neurosurgery
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