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1دورية أكاديمية
المؤلفون: Annalisa Paolino, Elizabeth H. Haines, Evan J. Bailey, Dylan A. Black, Ching Moey, Fernando García-Moreno, Linda J. Richards, Rodrigo Suárez, Laura R. Fenlon
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2دورية أكاديمية
المؤلفون: Thuong T. Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A. Mandelstam, Alison E. Gardner, Atma M. Ivancevic, Duyen Pham, Raman Kumar, Nicholas Smith, Chirag Patel, Stephen Malone, Monique M. Ryan, Sophie Calvert, Clare L. van Eyk, Michael Lardelli, Samuel F. Berkovic, Richard J. Leventer, Linda J. Richards, Ingrid E. Scheffer, Jozef Gecz, Mark A. Corbett
المصدر: Genes, Vol 14, Iss 8, p 1565 (2023)
مصطلحات موضوعية: X-linked, sex bias, DNA sequencing, developmental epileptic encephalopathy, wnt signalling, DNA repair, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Ching Moey, Amy K. Johnson, Jorge Vidaurre, Mary Karn, Cheryl Shoubridge, Soma Das, Scott Topper
المصدر: European Journal of Human Genetics. 24:681-689
مصطلحات موضوعية: Male, 0301 basic medicine, Codon, Initiator, Lissencephaly, Biology, medicine.disease_cause, Article, 03 medical and health sciences, Mutant protein, Genetics, medicine, Humans, Missense mutation, RNA, Messenger, Peptide Chain Initiation, Translational, Gene, Genetics (clinical), Homeodomain Proteins, Mutation, Siblings, Infant, Genetic Diseases, X-Linked, Translation (biology), medicine.disease, Phenotype, Molecular biology, HEK293 Cells, 030104 developmental biology, Homeobox, Spasms, Infantile, Transcription Factors
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المؤلفون: A. Micheil Innes, Iryna Lobach, Ashley L. Lennox, A. James Barkovich, Caroline Nava, Amy S. Kimball, Sébastien Küry, Julien Thevenon, Benjamin Cogné, Marie Vincent, Debra L. Silver, Bertrand Isidor, Alban Ziegler, Paul Kuentz, Delphine Héron, Kimberly A. Aldinger, Dusica Babovic-Vuksanovic, Elliott H. Sherr, Jens Bunt, Ching Moey, Brieana Fregeau, Lindsey Suit, Diana Rodriguez, Ghayda M. Mirzaa, Patrick R. Blackburn, Noriko Miyake, Cyril Mignot, Brian H.Y. Chung, Alexandra Afenjar, Lot Snijders Blok, Mathilde Nizon, Laurence Faivre, Ruiji Jiang, Nataliya Di Donato, Charles J. Sheehan, Christel Thauvin-Robinet, Boris Keren, Perrine Charles, Bethany L. Johnson-Kerner, Dominique Martin-Coignard, Suzanne DeBrosse, Eric W. Klee, Stéphane Bézieau, Linda J. Richards, Lydie Burglen, Stephen N. Floor, William B. Dobyns
مصطلحات موضوعية: Genetics, Pathogenesis, Germline mutation, Neurogenesis, Polymicrogyria, medicine, Missense mutation, Translation (biology), Biology, DDX3X, medicine.disease, RNA Helicase A
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::575d8c752d70398fb3fe03f7b2ff7515
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المؤلفون: Dominique Martin-Coignard, Sébastien Küry, Benjamin Cogné, Lot Snijders Blok, Patrick R. Blackburn, Mathilde Nizon, Diana Rodriguez, Ching Moey, Bethany L. Johnson-Kerner, Noriko Miyake, Philippe M. Campeau, Delphine Héron, Elliott H. Sherr, Nataliya Di Donato, Iryna Lobach, Dusica Babovic-Vuksanovic, Caroline Nava, Alexandra Afenjar, A. Micheil Innes, Ruiji Jiang, Naomichi Matsumoto, Stéphane Bézieau, Amy S. Kimball, Marie Vincent, Jens Bunt, Kimberly A. Aldinger, Christel Thauvin-Robinet, Julien Thevenon, Stephen N. Floor, Brian H.Y. Chung, Alban Ziegler, Maria Daniela D'Agostino, Ghayda M. Mirzaa, Paul Kuentz, Laurence Faivre, Cyril Mignot, William B. Dobyns, Boris Keren, Brieana Fregeau, Lindsey Suit, Lydie Burglen, Mariah L. Hoye, Atsushi Fujita, Debra L. Silver, Charles J. Sheehan, A. James Barkovich, Fernando C. Alsina, Srivats Venkataramanan, Bertrand Isidor, Perrine Charles, Eric W. Klee, Linda J. Richards, Ashley L. Lennox, Cynthia J. Curry
المصدر: Neuron. 106(3)
مصطلحات موضوعية: 0301 basic medicine, Male, Neurogenesis, Mutation, Missense, Biology, Pathogenesis, DEAD-box RNA Helicases, 03 medical and health sciences, Mice, 0302 clinical medicine, Germline mutation, Stress granule, Cell Line, Tumor, Polymicrogyria, medicine, Missense mutation, Animals, Humans, Cells, Cultured, Genetics, Cerebral Cortex, General Neuroscience, medicine.disease, RNA Helicase A, Mice, Inbred C57BL, 030104 developmental biology, Neurodevelopmental Disorders, RNA, Female, DDX3X, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35738231ffd11013829d0c96cf7e6060
https://pubmed.ncbi.nlm.nih.gov/32380046 -
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المؤلفون: Tessa Mattiske, Madhura Bakshi, Natalie P. Thorne, Lisenka E.L.M. Vissers, Ching Moey, Peter Georgeson, Cheryl Shoubridge
المصدر: Human Mutation, 38, 548-555
Human Mutation, 38, 5, pp. 548-555مصطلحات موضوعية: Male, 0301 basic medicine, Movement disorders, DNA Mutational Analysis, Lissencephaly, Biology, Frameshift mutation, 03 medical and health sciences, Exon, Genes, X-Linked, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Agenesis of the corpus callosum, education, Genetic Association Studies, Genetics (clinical), Homeodomain Proteins, Dystonia, education.field_of_study, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Brain, Exons, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Phenotype, Pedigree, 030104 developmental biology, Child, Preschool, Mutation, Aristaless related homeobox, Female, medicine.symptom, Transcription Factors
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المؤلفون: Susan J Hinze, Christopher P. Barnett, Ching Moey, Cheryl Shoubridge, Jozef Gecz, Jillian Nicholl, Nicola Brunetti-Pierri, Louise Brueton, Jenny Morton, Dominic J. McMullan, Benjamin Kamien
المساهمون: Moey, Ching, Hinze, Susan J., Brueton, Louise, Morton, Jenny, Mcmullan, Dominic J., Kamien, Benjamin, Barnett, Christopher P., BRUNETTI PIERRI, Nicola, Nicholl, Jillian, Gecz, Jozef, Shoubridge, Cheryl
مصطلحات موضوعية: 0301 basic medicine, Male, Adolescent, Chromosomal Proteins, Non-Histone, Cell Cycle Proteins, Disease, SMC1A, Biology, Bioinformatics, Article, 03 medical and health sciences, Young Adult, Intellectual Disability, Intellectual disability, Gene duplication, Chromosome Duplication, medicine, Genetics, Guanine Nucleotide Exchange Factors, Humans, Copy-number variation, RNA, Messenger, Young adult, Child, Gene, Genetics (clinical), Regulation of gene expression, Histone Demethylases, Behavior, Chromosomes, Human, X, Infant, Newborn, Infant, Nuclear Proteins, medicine.disease, Pedigree, DNA-Binding Proteins, 030104 developmental biology, Gene Expression Regulation, Neurodevelopmental Disorders, Child, Preschool, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f166ceea2760a187ef802626b5553d8
http://hdl.handle.net/11588/682818