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1دورية أكاديمية
المؤلفون: Bruce Hayward, Daman Kumari, Saikat Santra, Clara D. M. van Karnebeek, André B. P. van Kuilenburg, Karen Usdin
المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
مصطلحات موضوعية: Repeat expansion disease, Microsatellite instability, Mismatch repair (MMR), GDPAG, GLSD, Glutaminase deficiency disorder, Medicine, Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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2دورية أكاديمية
المؤلفون: Daman Kumari, Rachel Adihe Lokanga, Cai McCann, Thomas Ried, Karen Usdin
المصدر: iScience, Vol 27, Iss 2, Pp 108814- (2024)
مصطلحات موضوعية: Human Genetics, Molecular Genetics, Epigenetics, Science
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S258900422400035XTest; https://doaj.org/toc/2589-0042Test
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3دورية أكاديمية
المؤلفون: Rachel Adihe Lokanga, Daman Kumari, Karen Usdin
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: break-induced DNA replication, mitotic DNA synthesis, SLX1-SLX4, MUS81/EME1, replication fork blockage, R-loops, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.708860/fullTest; https://doaj.org/toc/1664-8021Test
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4دورية أكاديمية
المؤلفون: Daman Kumari, Nicholas Sciascia, Karen Usdin
المصدر: Genes, Vol 11, Iss 4, p 356 (2020)
مصطلحات موضوعية: fragile X syndrome, histone methyl-transferase, FMR1 gene reactivation, DNA methylation, H3K9 methylation, chaetocin, Genetics, QH426-470
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Daman Kumari, Inbal Gazy
المصدر: Brain Sciences, Vol 9, Iss 8, p 202 (2019)
مصطلحات موضوعية: n/a, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Daman Kumari, Inbal Gazy, Karen Usdin
المصدر: Brain Sciences, Vol 9, Iss 2, p 39 (2019)
مصطلحات موضوعية: fragile X syndrome, gene reactivation, RNA:DNA hybrid, FMRP, histone methylation, DNA methylation, FMR1, PRC2, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Rea Biacsi, Daman Kumari, Karen Usdin
المصدر: PLoS Genetics, Vol 4, Iss 3, p e1000017 (2008)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC2265469?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test
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8
المؤلفون: Daman Kumari, Bruce E. Hayward, Karen Usdin, Antonia G. Vitalo, Ricardo Mouro Pinto, Xiao-Nan Zhao, Geum-Yi Kim, Carson J. Miller
المصدر: Journal of Huntington's Disease
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Huntingtin, Ataxia, Somatic cell, Review, Biology, base excision repair, DNA Mismatch Repair, non-homologous end-joining, Genomic Instability, 03 medical and health sciences, Cellular and Molecular Neuroscience, Exon, FMR1-associated disorders, Mice, 0302 clinical medicine, Huntington's disease, medicine, Huntingtin Protein, trinucleotide repeat instability, Animals, Humans, Genetics, Genes, Modifier, Fragile X-related disorders, Polyglutamine tract, medicine.disease, mismatch repair, 030104 developmental biology, Huntington Disease, Friedreich ataxia, Fragile X Syndrome, double-strand break repair, Neurology (clinical), medicine.symptom, Trinucleotide repeat expansion, Trinucleotide Repeat Expansion, 030217 neurology & neurosurgery, Huntington’s disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f399a5de4f0187afd3e05d67e00613beTest
http://europepmc.org/articles/PMC7990428Test -
9
المؤلفون: Karen Usdin, Daman Kumari
المصدر: Expert Review of Molecular Diagnostics. 20:363-365
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, medicine.disease, FMR1, Pathology and Forensic Medicine, Molecular analysis, Fragile X syndrome, Cognitive disabilities, Neurodevelopmental disorder, mental disorders, Genetics, Molecular Medicine, Medicine, Autism, Allele, business, Molecular Biology, Patient stratification
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::65c2dcd64530845d7c82463bacf9232dTest
https://doi.org/10.1080/14737159.2020.1729744Test -
10
المؤلفون: Farhad Karbassi, Joke J.F.A. van Vugt, Daman Kumari, Doreen Dobritzsch, Britt I. Drögemöller, Michael A. Eberle, Clara D. M. van Karnebeek, Maja Tarailo-Graovac, Brett Trost, Ronald J. A. Wanders, Saikat Santra, Michel van Weeghel, Youdong Wang, Wyeth W. Wasserman, Marjolein Turkenburg, Xiao-Yan Wen, Andre B. P. van Kuilenburg, Meaghan J Jones, Jagdeep S. Walia, Koroboshka Brand-Arzamendi, Rene Leen, Julia L Macisaac, Hans R. Waterham, Laura A. Tseng, Michael S. Kobor, Charlotte Nguyen, Karen Usdin, Janet Koster, Indhu-Shree Rajan-Babu, Xiaohong Xu, Bernice Sim, Jinqiu Zhang, Jan H. Veldink, Meng Li, Egor Dolzhenko, Ryan K. C. Yuen, Stephen W. Scherer, Cassandra L. McDonald, Judith Meijer, Phillip A. Richmond, Bruce E. Hayward, C. J. Ross, Galen E.B. Wright, Mahmoud A. Pouladi, Michael T. Geraghty
المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, Oncogenomics, ARD - Amsterdam Reproduction and Development, APH - Methodology, Paediatric Metabolic Diseases, ACS - Diabetes & metabolism, Laboratory Medicine, Pediatric surgery
المصدر: New England journal of medicine, 380(15), 1433-1441. Massachussetts Medical Society
New England Journal of Medicine, 380(15), 1433-1441. Massachussetts Medical Society
van Kuilenburg, A B P, Tarailo-Graovac, M, Richmond, P A, Drögemöller, B I, Pouladi, M A, Leen, R, Brand-Arzamendi, K, Dobritzsch, D, Dolzhenko, E, Eberle, M A, Hayward, B, Jones, M J, Karbassi, F, Kobor, M S, Koster, J, Kumari, D, Li, M, MacIsaac, J, McDonald, C, Meijer, J, Nguyen, C, Rajan-Babu, I S, Scherer, S W, Sim, B, Trost, B, Tseng, L A, Turkenburg, M, van Vugt, J J F A, Veldink, J H, Walia, J S, Wang, Y, van Weeghel, M, Wright, G E B, Xu, X, Yuen, R K C, Zhang, J, Ross, C J, Wasserman, W W, Geraghty, M T, Santra, S, Wanders, R J A, Wen, X Y, Waterham, H R, Usdin, K & van Karnebeek, C D M 2019, ' Glutaminase deficiency caused by short tandem repeat expansion in GLS ', New England Journal of Medicine, vol. 380, no. 15, pp. 1433-1441 . https://doi.org/10.1056/NEJMoa1806627Test
N Engl J Medمصطلحات موضوعية: Untranslated region, Male, Ataxia, Genotype, Developmental Disabilities, Glutamine, 030204 cardiovascular system & hematology, Polymerase Chain Reaction, Article, 03 medical and health sciences, 0302 clinical medicine, Glutaminase, Cerebellum, medicine, Humans, 030212 general & internal medicine, Allele, Gene, Amino Acid Metabolism, Inborn Errors, Exome sequencing, Genetics, Whole genome sequencing, Whole Genome Sequencing, business.industry, General Medicine, medicine.disease, Phenotype, Inborn error of metabolism, Child, Preschool, Mutation, Female, medicine.symptom, Atrophy, business, Microsatellite Repeats
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::813158a7c5d6c16623b474be3bcc9e38Test
https://doi.org/10.1056/nejmoa1806627Test