المؤلفون: Lakshmi Mehta, Yakira Begun, May Sanyoura, Christine Stanley

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101138- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S294977442400284XTest; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/842ec438751c4d5fad44ea8bf194ea13Test

المؤلفون: Ludmila Kaplun, Greice Krautz-Peterson, Nir Neerman, Christine Stanley, Shane Hussey, Margo Folwick, Ava McGarry, Shirel Weiss, Alexander Kaplun

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: long read sequencing, structural variants (SVs), orthogonal variant confirmation, clinical genetic testing, whole genome sequencing (WGS), oxford nanopore technologies (ONT), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1145285/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/a27f30ef73854c9aa94abd4c9389571aTest

المؤلفون: Ludmila Kaplun, Greice Krautz-Peterson, Nir Neerman, Christine Stanley, Shane Hussey, Margo Folwick, Ava McGarry, Shirel Weiss, Alexander Kaplun

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, long read sequencing, structural variants (SVs), orthogonal variant confirmation, clinical genetic testing, whole genome sequencing (WGS), oxford nanopore technologies (ONT), small sequence changes (SSCs)

العلاقة: https://figshare.com/articles/dataset/DataSheet1_ONT_long-read_WGS_for_variant_discovery_and_orthogonal_confirmation_of_short_read_WGS_derived_genetic_variants_in_clinical_genetic_testing_pdf/22957202Test

الإتاحة: https://doi.org/10.3389/fgene.2023.1145285.s001Test
https://figshare.com/articles/dataset/DataSheet1_ONT_long-read_WGS_for_variant_discovery_and_orthogonal_confirmation_of_short_read_WGS_derived_genetic_variants_in_clinical_genetic_testing_pdf/22957202Test

المؤلفون: Ravi Kandasamy, Eric White, Joseph P. Strycharz, Sherry Hansen, Claude Hamby, Sarah Waterhouse, Ashley Salkeld, Kailyn Mannke, Cecille Valliere, Samuel Phillips, Nidhi Ramaraj, Christine Stanley, Uma Ananth, Sunil Deochand, Ronel Veksler, Tomer Lauterman, Danielle Afterman, Iman Tavassoly, Boris Oklander, Asaf Zviran

المصدر: Journal of Clinical Oncology. 40:e13582-e13582

مصطلحات موضوعية: Cancer Research, Oncology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cb2c9b78f6c930dcc7ea3fe75bf14abaTest
https://doi.org/10.1200/jco.2022.40.16_suppl.e13582Test

المؤلفون: James A. Wohlschlegel, Jill A. Rosenfeld, Isabelle Coppens, Janet Markle, Marsha Pratt, Nawal Makhseed, Xianghui Chen, Thomas A. Burrow, Yu Zhang, Timothy S. Wang, Santosh R. Mordekar, Noelle R. Danylchuk, Michael E. Meadow, Kyle Metz, Daniel Crooks, Satish Agadi, Katrina Peariso, Gerard T. Berry, Michael J. Parker, Hee Jong Kim, Esther Leshinsky-Silver, Dianalee McKnight, Christine Stanley, Tobias Loddenkemper, Adam L. Hartman, Isabelle Prehl, Gustavo Maegawa, J. Marie Hardwick, Adolfo Garnica, Abdel Aouacheria, Min Tsui Ong, Parul Jayakar, Weimin Bi, Heather M. Lamb, Hatha Gbedawo, Michael Alber, Bart E. Wagner, Thomas C. Markello, Yaping Yang, Glenn Anderson, Xinchen Teng, Edda Haberlandt, Pankaj B. Agrawal

المساهمون: Institut des Sciences de l'Evolution de Montpellier (UMR ISEM), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université de Montpellier (UM)-Institut de recherche pour le développement [IRD] : UR226-Centre National de la Recherche Scientifique (CNRS), R01 NS037402/NH/NIH HHS/United StatesR01 NS083373/NH/NIH HHS/United StatesT32 AI007417/AI/NIAID NIH HHS/United StatesCURE/CURE, Citizens United for Research in Epilepsy/United StatesR01 NS037402/NS/NINDS NIH HHS/United StatesR21 NS096677/NS/NINDS NIH HHS/United StatesK08 NS070931/NS/NINDS NIH HHS/United StatesK08 NS070931/NH/NIH HHS/United StatesR01 GM077875/GM/NIGMS NIH HHS/United StatesR01 GM089778/GM/NIGMS NIH HHS/United StatesR01 GM089778/NH/NIH HHS/United StatesR01 NS083373/NS/NINDS NIH HHS/United States, Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-École pratique des hautes études (EPHE)

المصدر: Annals of Neurology
Annals of Neurology, 2018, 84 (5), pp.766-780. ⟨10.1002/ana.25351⟩
Annals of Neurology, Wiley, 2018, 84 (5), pp.766-780. ⟨10.1002/ana.25351⟩

مصطلحات موضوعية: Male, 0301 basic medicine, Potassium Channels, Movement disorders, MESH: Lysosomes/pathology, KCTD7, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], MESH: Potassium Channels/deficiency, MESH: Lysosomes/genetics, MESH: Neurodegenerative Diseases/pathology, Age of Onset, Genetics, Neurodegenerative Diseases, MESH: Infant, Pedigree, 3. Good health, medicine.anatomical_structure, Neurology, Child, Preschool, Female, MESH: Autophagy/genetics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, Saccharomyces cerevisiae Proteins, MESH: Mutation, Protein family, MESH: Pedigree, MESH: Age of Onset, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Progressive myoclonus epilepsy, Biology, Article, Lipofuscin, 03 medical and health sciences, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Lysosome, Autophagy, medicine, Humans, MESH: Neurodegenerative Diseases/genetics, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], MESH: Potassium Channels/genetics, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Child, Preschool, Infant, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, MESH: Male, MESH: Saccharomyces cerevisiae Proteins/genetics, 030104 developmental biology, Mutation, Neuronal ceroid lipofuscinosis, Neurology (clinical), Age of onset, Lysosomes, MESH: Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e934647c53095a558f35a183951ec7eeTest
https://doi.org/10.1002/ana.25351Test

المؤلفون: Shyla Christine Stanley

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b2f39dbc4d1d7a0e80bc6f3b1f3c5a6aTest
https://doi.org/10.33915/etd.6714Test

المؤلفون: Christine Stanley, Jennifer Twachtman-Bassett, Justin Cotney, Kristin Tokarski, Louisa Kalsner, Thyde Dumont-Mathieu, Stormy J. Chamberlain

المصدر: Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, targeted gene panel, Adolescent, DNA Copy Number Variations, Autism Spectrum Disorder, Population, Genomics, 03 medical and health sciences, Genetics, medicine, Ethnicity, Humans, Exome, Genetic Predisposition to Disease, Copy-number variation, Genetic Testing, education, Child, Molecular Biology, Genetics (clinical), Exome sequencing, Genetic testing, education.field_of_study, medicine.diagnostic_test, business.industry, KIRREL3, Genetic Variation, High-Throughput Nucleotide Sequencing, Infant, Membrane Proteins, Original Articles, Penetrance, racial/ethnic diversity, TSC2, 030104 developmental biology, Child, Preschool, Medical genetics, Original Article, Female, business, Carrier Proteins, microarray

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6a0384422db90a0eb37d0f99002a2c4Test
http://europepmc.org/articles/PMC5902398Test

المؤلفون: Iris Myers, Christine Stanley, Sarah Hord

المصدر: INTED2019 Proceedings.

مصطلحات موضوعية: Development (topology), Second language, Mathematics education, Language acquisition, Psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ee589ef8e1a9f38d51039e1f5732d88aTest
https://doi.org/10.21125/inted.2019.0598Test

المؤلفون: Sarah Hord, Christine Stanley, Iris Myers

المصدر: ICERI Proceedings.

مصطلحات موضوعية: Second language, Mathematics education, Psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0a24140997d515f26847a863063a2186Test
https://doi.org/10.21125/iceri.2017.0722Test

المؤلفون: Martin, Christine Stanley

المصدر: Medical Acupuncture ; volume 27, issue 6, page 411-419 ; ISSN 1933-6586 1933-6594

مصطلحات موضوعية: Complementary and alternative medicine

الإتاحة: https://doi.org/10.1089/acu.2015.1137Test