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1
المؤلفون: Kym M. Boycott, Lyndon Gallacher, Aziz Mhanni, Simon Sadedin, Xiaomin Dong, Kristin D. Kernohan, Arran McBride, Ismaël Alidou-D'Anjou, John Christodoulou, Zornitza Stark, Aren E Marshall, François Dragon, Samantha E Marin, Patrick Frosk, Marc R. Del Bigio, Sophie Sleiman
المصدر: Human Molecular Genetics. 31:614-624
مصطلحات موضوعية: Genetics, Dystonia, Saccharomyces cerevisiae Proteins, Neurodegeneration, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Saccharomyces cerevisiae, General Medicine, Biology, medicine.disease, Compound heterozygosity, Phenotype, Dystonic Disorders, medicine, Humans, Small nucleolar RNA, RRNA processing, Molecular Biology, Genetics (clinical), Exome sequencing, Ribonucleoprotein
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المؤلفون: Kristin D. Kernohan, Sara Ellingwood, Jaime Barea, Christoffer Nellåker, Simon Sadedin, Katrin Õunap, Taila Hartley, Margarete Koch-Hogrebe, Marjan M. Nezarati, Augusta M. A. Lachmeijer, Dagmar Wieczorek, Elizabeth J. Bhoj, Paul J. Lockhart, Kym M. Boycott, Aren E Marshall, Tiong Yang Tan, Sander Pajusalu, Arran McBride, John Christodoulou, Michelle E. Ernst, Alison S May, Rami Abou Jamra, Susan M. White, Dong Li, K.L.I. van Gassen, Wendy E. Smith
المصدر: Am J Hum Genet
مصطلحات موضوعية: Male, Adolescent, DNA Repair, DNA damage, DNA repair, medicine.disease_cause, Chromatin remodeling, 03 medical and health sciences, DDB1, Report, Histone methylation, Genetics, medicine, Humans, Child, Genetics (clinical), Alleles, 030304 developmental biology, 0303 health sciences, Mutation, biology, 030305 genetics & heredity, Syndrome, Hypotonia, Ubiquitin ligase, DNA-Binding Proteins, Phenotype, Neurodevelopmental Disorders, Child, Preschool, biology.protein, Female, medicine.symptom
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3
المؤلفون: Kristin D. Kernohan, Laure Frésard, Zachary Zappala, Taila Hartley, Kevin S. Smith, Justin Wagner, Hongbin Xu, Arran McBride, Pierre R. Bourque, CareRare Canada Consortium, Steffany A. L. Bennett, David A. Dyment, Kym M. Boycott, Stephen B. Montgomery, Jodi Warman Chardon
المصدر: Human Mutation. 38:611-614
مصطلحات موضوعية: 0301 basic medicine, Mutation, In silico, RNA, Spinal muscular atrophy, Biology, medicine.disease, medicine.disease_cause, Bioinformatics, DNA sequencing, 3. Good health, 03 medical and health sciences, 030104 developmental biology, Spinal muscular atrophy with progressive myoclonic epilepsy, RNA splicing, Genetics, ASAH1, medicine, Genetics (clinical)
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4
المؤلفون: Kristin D. Kernohan, Samantha K Rojas, Taila Hartley, Kym M. Boycott, David A. Dyment, Sarah Dyack, Arran McBride
المصدر: Clinical geneticsREFERENCES. 96(5)
مصطلحات موضوعية: 0301 basic medicine, MAPK/ERK pathway, Adolescent, GTPase, 030105 genetics & heredity, Biology, 03 medical and health sciences, PAK1, GTP-Binding Proteins, Intellectual Disability, Exome Sequencing, Genetics, Humans, Genetic Predisposition to Disease, Autistic Disorder, Phosphorylation, p21-activated kinases, Child, Genetics (clinical), Exome sequencing, Genetic Association Studies, Epilepsy, Kinase, Wnt signaling pathway, Regressive autism, 030104 developmental biology, p21-Activated Kinases, Child, Preschool, Cancer research, Female, Signal Transduction
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5
المؤلفون: Jeremy Schwartzentruber, Jacek Majewski, Susan Blaser, Nicole Martin, David Chitayat, Yanwei Xi, Arran McBride, Kym M. Boycott, Kristin D. Kernohan, David A. Dyment
المصدر: Clinical Genetics. 91:708-716
مصطلحات موضوعية: 0301 basic medicine, Genetics, Microcephaly, Methyltransferase, 030102 biochemistry & molecular biology, Arginine, Lysine, Brachydactyly, Methylation, Biology, medicine.disease, Null allele, 03 medical and health sciences, 030104 developmental biology, Histone, medicine, biology.protein, Genetics (clinical)
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6
المؤلفون: Paula Morris, Rani Sachdev, Kevin Ying, Rebecca Macintosh, Kerith-Rae Dias, Holly Dubbs, Jiang Tao, Amy M. Breman, Mark J. Cowley, Oana Caluseriu, Laura M McDonell, Oksana Suchowersky, Li Wang, Berivan Baskin, Tony Roscioli, Elizabeth E. Palmer, Vincenzo A. Gennarino, Carolyn J. Adamski, Ann M. E. Bye, Chun-An Chen, Jessica A. Panzer, Michael Cardamone, Jianrong Tang, Huda Y. Zoghbi, Marcel E. Dinger, Ying Zhu, Edwin P. Kirk, Amanda Koire, J. Lloyd Holder, Megan T. Cho, Lindsay B. Henderson, Ute Moog, Lauren See, Kym M. Boycott, Tejaswi Kandula, Pawel Stankiewicz, Jill A. Rosenfeld, Shuang Hao, Olivier Lichtarge, Christian P. Schaaf, Arran McBride
المصدر: Epilepsy Currents
مصطلحات موضوعية: 0301 basic medicine, Male, Developmental Disabilities, Haploinsufficiency, medicine.disease_cause, Mice, 0302 clinical medicine, Missense mutation, Age of Onset, Child, Genetics, Neurons, Aged, 80 and over, Mutation, biology, Protein Stability, Neurodegeneration, RNA-Binding Proteins, Middle Aged, Penetrance, Current Literature in Basic Science, Pedigree, Child, Preschool, Female, medicine.symptom, Adult, Ataxia, Adolescent, Mutation, Missense, Ataxin 1, General Biochemistry, Genetics and Molecular Biology, Article, Evolution, Molecular, 03 medical and health sciences, Seizures, medicine, Animals, Humans, Genetic Predisposition to Disease, Cerebellar ataxia, Base Sequence, Infant, medicine.disease, 030104 developmental biology, HEK293 Cells, biology.protein, 030217 neurology & neurosurgery, Gene Deletion, Developmental Biology
وصف الملف: application/pdf
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المؤلفون: David I. Rodenhiser, Charles E. Schwartz, Kristin D. Kernohan, Guillaume Paré, Laila C. Schenkel, Ditta Reina, Amanda Hodge, Kym M. Boycott, Arran McBride, Cindy Skinner, Bekim Sadikovic, Peter Ainsworth, Nathalie G. Bérubé
المصدر: Paediatrics Publications
Epigenetics & Chromatinمصطلحات موضوعية: 0301 basic medicine, Male, Bisulfite sequencing, Intellectual disability, medicine.disease_cause, Pediatrics, Epigenesis, Genetic, Mental Retardation, Child, Promoter Regions, Genetic, Genetics, Mutation, DNA methylation, Middle Aged, 3. Good health, Chromatin, ATRX, Child, Preschool, Sequence Analysis, Adult, X-linked Nuclear Protein, Adolescent, Genotype, Heterochromatin, Biology, Promoter Regions, 03 medical and health sciences, Young Adult, Genetic, alpha-Thalassemia, medicine, Humans, Epigenetics, Preschool, Molecular Biology, Research, Infant, Biomarker, DNA, Sequence Analysis, DNA, DNA Methylation, X-Linked, 030104 developmental biology, Differentially methylated regions, Mental Retardation, X-Linked, CpG Islands, Epi-signature, Epigenesis
وصف الملف: application/pdf
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المؤلفون: Kym M. Boycott, Erick Sell, Arran McBride, Martine Tétreault, Kristin D. Kernohan, Brooke E. Spangler, Lijia Huang, Eric A. Shoubridge, Geneviève Bernard, Taila Hartley, Virginia K. Proud, Mihaela Pupavac, David A. Dyment, Isabelle Thiffault, Samanta Vergano, David S. Rosenblatt, Zvi Cramer, Tara Myers, Jennifer Kussman, Jacek Majewski, Nicole P. Safina, Carol J Saunders, Aziz Mhanni, Emily G. Farrow, Isabella R Straub
المصدر: Human mutation. 38(5)
مصطلحات موضوعية: 0301 basic medicine, Biallelic Mutation, Male, Microcephaly, Mitochondrial Diseases, Adolescent, Mitochondrial disease, Genes, Recessive, TRNA isopentenyltransferase, Biology, medicine.disease_cause, 03 medical and health sciences, Genetics, medicine, Humans, Genetic Testing, Child, Gene, Genetics (clinical), Alleles, Mutation, Alkyl and Aryl Transferases, Homozygote, Brain, Facies, medicine.disease, Phenotype, Magnetic Resonance Imaging, 030104 developmental biology, Child, Preschool, Transfer RNA, Female
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9
المؤلفون: Skye McBride, Wenhui Hao, Jian Ping Gao, Arran McBride, Zhi Yuan Wang
المصدر: J. Mater. Chem.. 21:1040-1048
مصطلحات موضوعية: Detection limit, chemistry.chemical_classification, Aqueous solution, Analytical chemistry, General Chemistry, Photochemistry, Fluorescence, Amino acid, symbols.namesake, chemistry.chemical_compound, chemistry, Stokes shift, Materials Chemistry, symbols, Derivatization, Molecular probe, Cysteine
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10Academic Journal
المؤلفون: Wenhui Hao, Arran McBride, Skye McBride, Jian Ping Gao, Zhi Yuan Wang
المصدر: Journal of Materials Chemistry; Jan2011, Vol. 21 Issue 4, p1040-1048, 9p