المؤلفون: Dong Li, Xiao Chang, John J. Connolly, Lifeng Tian, Yichuan Liu, Elizabeth J. Bhoj, Nora Robinson, Debra Abrams, Yun R. Li, Jonathan P. Bradfield, Cecilia E. Kim, Jin Li, Fengxiang Wang, James Snyder, Maria Lemma, Cuiping Hou, Zhi Wei, Yiran Guo, Haijun Qiu, Frank D. Mentch, Kelly A. Thomas, Rosetta M. Chiavacci, Roger Cone, Bingshan Li, Patrick A. Sleiman, Eating Disorders Working Group of the Psychiatric Genomics Consortium, Price Foundation Collaborative Group, Hakon Hakonarson

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-4 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/22c1a68e1b1244bfbeccc05477f6cb9e

المؤلفون: Dong Li, Xiao Chang, John J. Connolly, Lifeng Tian, Yichuan Liu, Elizabeth J. Bhoj, Nora Robinson, Debra Abrams, Yun R. Li, Jonathan P. Bradfield, Cecilia E. Kim, Jin Li, Fengxiang Wang, James Snyder, Maria Lemma, Cuiping Hou, Zhi Wei, Yiran Guo, Haijun Qiu, Frank D. Mentch, Kelly A. Thomas, Rosetta M. Chiavacci, Roger Cone, Bingshan Li, Patrick A. Sleiman, Eating Disorders Working Group of the Psychiatric Genomics Consortium, Price Foundation Collaborative Group, Hakon Hakonarson

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-8 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/c8e31ccf3a9142b0b22d33ac699f7142

المؤلفون: Patricia J. Hicks, Leticia S. Matsuoka, Michael E. March, Matthew R. Swift, Charlly Kao, Mark R Battig, Alvaro Gutierrez-Uzquiza, Christoph Seiler, Hyun Min Jung, Michael A. Levine, Elizabeth J. Bhoj, Courtney N Kaminski, Hakon Hakonarson, Lifeng Tian, Brant M. Weinstein, Yoav Dori, Rosetta M. Chiavacci, Janet T. Strausbaugh, Nora Robinson, Jonathan A. Perkins, Dong Li, Erin Pinto, Tiancheng Wang, Patrick M. A. Sleiman, Jean B. Belasco, Tara L. Wenger, Yichuan Liu

المصدر: Nature Medicine. 25:1116-1122

مصطلحات موضوعية: 0301 basic medicine, Proband, Trametinib, Lymphatic edema, Mutation, business.industry, MEK inhibitor, General Medicine, medicine.disease, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, Lymphatic disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Lymphatic system, 030220 oncology & carcinogenesis, Cancer research, medicine, ARAF, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d33ec3adbbbc964ceb8411ead074e1a8
https://doi.org/10.1038/s41591-019-0479-2

المؤلفون: Maede Mohebnasab, Brendan J. Keating, Cuiping Hou, Elizabeth Goldmuntz, Fengxiang Wang, Marcella Devoto, Hakon Hakonarson, Rosetta M. Chiavacci, Robert W. Grundmeier, Bradley P. Coe, Dexter Hadley, Marina Bakay, Alexandria Thomas, Jin Li, Patrick M. A. Sleiman, Xiao Chang, Lawrence Wu, Joseph T. Glessner, Haijun Qiu, Mingyao Li, Shanell Harrison, Christopher J. Cardinale, Michael E. March, Munir Khan, Josephine Elia, Maria Lemma, Renata Pellagrino, Evan E. Eichler, Struan F.A. Grant, Debra J. Abrams, Andrew Bridglall-Jhingoor, John J. Connolly, John M. Maris, Cecilia Kim, Meckenzie Behr, Jonathan P. Bradfield, George Otieno, Frank D. Mentch, Zhi Wei, Charlly Kao, Yun Li

المصدر: Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: 0301 basic medicine, copy number variants, disease association, genome, DNA Copy Number Variations, Science, Genetic predisposition to disease, General Physics and Astronomy, Diseases, Genome-wide association study, Disease, Biology, Genome-wide association studies, Polymorphism, Single Nucleotide, Article, White People, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Databases, Genetic, Gene duplication, Humans, SNP, Copy-number variation, Genetics, Comparative Genomic Hybridization, Multidisciplinary, Genome, Human, Molecular Sequence Annotation, General Chemistry, 3. Good health, 030104 developmental biology, Genetic Loci, Human genome, Structural variation, 030217 neurology & neurosurgery, Genome-Wide Association Study, SNP array, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65ae4cb6b2ede06c896194e00ea83562
https://doi.org/10.1038/s41467-019-13624-1

المؤلفون: Jonathan P Bradfield, Hui-Qi Qu, Kai Wang, Haitao Zhang, Patrick M Sleiman, Cecilia E Kim, Frank D Mentch, Haijun Qiu, Joseph T Glessner, Kelly A Thomas, Edward C Frackelton, Rosetta M Chiavacci, Marcin Imielinski, Dimitri S Monos, Rahul Pandey, Marina Bakay, Struan F A Grant, Constantin Polychronakos, Hakon Hakonarson

المصدر: PLoS Genetics, Vol 7, Iss 9, p e1002293 (2011)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3183083?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/897f4eff66334d93beff18075888a2db

المؤلفون: Struan F A Grant, Mingyao Li, Jonathan P Bradfield, Cecilia E Kim, Kiran Annaiah, Erin Santa, Joseph T Glessner, Tracy Casalunovo, Edward C Frackelton, F George Otieno, Julie L Shaner, Ryan M Smith, Marcin Imielinski, Andrew W Eckert, Rosetta M Chiavacci, Robert I Berkowitz, Hakon Hakonarson

المصدر: PLoS ONE, Vol 3, Iss 3, p e1746 (2008)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2262153?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/23d313cfac7d4c49879d454db897a2d9

المؤلفون: Gabrielle J. Kosobucki, Rosetta M. Chiavacci, Celina von Stülpnagel-Steinbeis, Lifeng Tian, Wenjuan Chen, Konstanze Hörtnagel, Eric D. Marsh, Xilma R. Ortiz-Gonzalez, Ulrike B. S. Hedrich, Stephen F. Traynelis, Claudia Naase, Anel Tankovic, Marni J. Falk, Hakon Hakonarson, Johannes R. Lemke, Dong Li, Hirofumi Kusumoto, Gina E. Elsen, Elias Aizenman, Chun Hu, Anthony J. Schulien, Hongjie Yuan, Elizabeth M. McCormick, Frieder Brueckner

المصدر: The American Journal of Human Genetics. 99:802-816

مصطلحات موضوعية: 0301 basic medicine, Mutation, Excitotoxicity, Glutamate receptor, Memantine, Status epilepticus, Pharmacology, Biology, medicine.disease_cause, medicine.disease, 03 medical and health sciences, Epilepsy, 030104 developmental biology, 0302 clinical medicine, Genetics, medicine, Missense mutation, NMDA receptor, medicine.symptom, 030217 neurology & neurosurgery, Genetics (clinical), medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::31548c3163bcbcfe74f0546ba351c4d5
https://doi.org/10.1016/j.ajhg.2016.07.013

المؤلفون: Kelly A. Thomas, Fengxiang Wang, Cecilia Kim, Frank D. Mentch, Cuiping Hou, Renata Pellegrino, Rahul Pandey, Tiancheng Wang, Hakon Hakonarson, Patrick M. A. Sleiman, Jin Li, Irene Fung, Jonathan M. Spergel, Rosetta M. Chiavacci, Marina Bakay, Joseph T. Glessner, Zhi Wei

المصدر: The Journal of Immunology. 195:1599-1607

مصطلحات موضوعية: Male, Candidate gene, Allergy, Adolescent, DNA Copy Number Variations, Immunology, Single-nucleotide polymorphism, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Allergen, Meta-Analysis as Topic, Food allergy, medicine, Humans, Immunology and Allergy, Genetic Predisposition to Disease, Copy-number variation, RNA, Small Interfering, Child, Gene, Genetic Association Studies, Genetics, Age Factors, RNA-Binding Proteins, Reproducibility of Results, Middle Aged, medicine.disease, Case-Control Studies, Child, Preschool, Cohort, Female, RNA Splicing Factors, Food Hypersensitivity, Gene Deletion, alpha Catenin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adb2bc9689227fcf60b8f7001ddf2993
https://doi.org/10.4049/jimmunol.1402310

المؤلفون: Patrick M. A. Sleiman, Marina Bakay, Lifeng Tian, Charlly Kao, Tara L. Wenger, Nora Robinson, Yoav Dori, Alvaro Gutierrez-Uzquiza, Renata Pellegrino da Silva, Cuiping Hou, Maxim Itkin, Patricia J. Hicks, Mechenzie Behr, Dong Li, Tiancheng Wang, Misha Rosenbach, Yichuan Liu, Rosetta M. Chiavacci, Michael E. March, Christoph Seiler, Michael A. Levine, Jonathan A. Perkins, Elizabeth J. Bhoj, Hakon Hakonarson

المصدر: Hum Mol Genet

مصطلحات موضوعية: 0301 basic medicine, Heterozygote, Morpholino, Mutant, Receptor, EphB4, Biology, Mechanistic Target of Rapamycin Complex 1, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, Genetics, medicine, Lymphatic vessel, Animals, Humans, Phosphorylation, Molecular Biology, Zebrafish, Genetics (clinical), Lymphatic Vessels, Mutation, Lymphatic Abnormalities, HEK 293 cells, Receptor Protein-Tyrosine Kinases, General Medicine, Transfection, biology.organism_classification, Molecular biology, Pedigree, Disease Models, Animal, 030104 developmental biology, Lymphatic system, medicine.anatomical_structure, HEK293 Cells, 030220 oncology & carcinogenesis, Original Article, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42a7524903da4886a2d43787e68e8b4
https://europepmc.org/articles/PMC7190898/

المؤلفون: Nilsa De Jesus-Rosario, Andrew Weller, Joshua Davis, Emma Slattery, Tiancheng Wang, Lene Larsen, Sharon Hwang, Brian Sykes, Hakon Hakonarson, Jacqueline Potts, Enda Byrne, Rosetta M. Chiavacci, J. Jeffrey Malatack, Josephine Elia, Bhumi Kumar, Kanani Titchen, Athena F. Zuppa, Charlly Kao, Yun Li, Christine Kurian, Grace Ungal, Alexander Ambrosini, Walter K. Kraft, Ganesh S. Moorthy

المصدر: Nature Communications
Nature Communications, Vol 9, Iss 1, Pp 1-9 (2018)

مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, medicine.medical_specialty, Adolescent, Science, medicine.medical_treatment, General Physics and Astronomy, Placebo, Receptors, Metabotropic Glutamate, behavioral disciplines and activities, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Glutamatergic, 0302 clinical medicine, Double-Blind Method, Internal medicine, mental disorders, medicine, Humans, Single-Blind Method, Excitatory Amino Acid Agents, lcsh:Science, Adverse effect, Child, Multidisciplinary, Dose-Response Relationship, Drug, business.industry, Glutamate receptor, General Chemistry, Fasoracetam, Stimulant, 030104 developmental biology, Metabotropic receptor, Metabotropic glutamate receptor, Attention Deficit Disorder with Hyperactivity, Area Under Curve, Mutation, lcsh:Q, Female, business, 030217 neurology & neurosurgery, medicine.drug, Half-Life

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57396efdedbded7a36a886713156cf75
http://europepmc.org/articles/PMC5770454