-
1دورية أكاديمية
المؤلفون: Rhett G. Marchant, Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett, Mark R. Davis, Vijay S. Ganesh, Roula Ghaoui, Kristi J. Jones, Andrew J. Kornberg, Monkol Lek, Christina Liang, Daniel G. MacArthur, Emily C. Oates, Anne O'Donnell‐Luria, Gina L. O'Grady, Ikeoluwa A. Osei‐Owusu, Haloom Rafehi, Stephen W. Reddel, Richard H. Roxburgh, Monique M. Ryan, Sarah A. Sandaradura, Liam W. Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J. Evesson, Leigh B. Waddell, Sandra T. Cooper
المصدر: Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1250-1266 (2024)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2328-9503Test
-
2دورية أكاديمية
المؤلفون: Sarah L. Stenton, Melanie C. O’Leary, Gabrielle Lemire, Grace E. VanNoy, Stephanie DiTroia, Vijay S. Ganesh, Emily Groopman, Emily O’Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S. Pais, Jillian Serrano, Moriel Singer-Berk, Ben Weisburd, Michael W. Wilson, Christina Austin-Tse, Marwa Abdelhakim, Azza Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Robert Hoehndorf, Julius O. B. Jacobsen, Thomas Joseph, Akash Kamandula, Panagiotis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, Marta Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio S. Podda, Aditya Rao, Ettore Rizzo, Vangala G. Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda Williams, Elizabeth A. Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E. Brenner, Stephanie M. Fullerton, Predrag Radivojac, Heidi L. Rehm, Anne O’Donnell-Luria
المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-25 (2024)
مصطلحات موضوعية: Rare disease, Genome sequencing, Genome interpretation, Variant prioritization, Best practices, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1479-7364Test
-
3دورية أكاديميةDe novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
المؤلفون: Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, Lynn Pais, Malika Sud, Uma Shankavaram, Alysia Kern Lovgren, Christina Austin-Tse, Vijay S. Ganesh, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Lluís Palenzuela, Grace VanNoy, Anne O’Donnell-Luria, Travis H. Stracker
المصدر: iScience, Vol 27, Iss 6, Pp 109984- (2024)
مصطلحات موضوعية: neuroscience, genetics, immunology, Science
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2589004224012069Test; https://doaj.org/toc/2589-0042Test
-
4دورية أكاديمية
المؤلفون: Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty, Seth Stafki, Elicia A. Estrella, Emily S. McGaughy, Don Truong, Jonathan P. Badalamenti, Lynn Pais, Vijay S. Ganesh, Anne O'Donnell‐Luria, Heather J. Stalker, Yang Wang, Christin Collins, Andrea Behlmann, Richard J. L. F. Lemmers, Silvère M. van derMaarel, Regina Laine, Partha S. Ghosh, Basil T. Darras, Carla D. Zingariello, Christina A. Pacak, Louis M. Kunkel, Peter B. Kang
المصدر: Annals of Clinical and Translational Neurology, Vol 9, Iss 8, Pp 1302-1309 (2022)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2328-9503Test
-
5دورية أكاديمية
المؤلفون: Isaac H. Solomon, Vijay S. Ganesh, Guixia Yu, Xian Ding Deng, Michael R. Wilson, Steve Miller, Tracey A. Milligan, Shibani S. Mukerji, Abigail Mathewson, Justin Linxweiler, Darlene Morse, Jana M. Ritter, J. Erin Staples, Holly Hughes, Carolyn V. Gould, Pardis C. Sabeti, Charles Y. Chiu, Anne Piantadosi
المصدر: Emerging Infectious Diseases, Vol 27, Iss 1, Pp 238-242 (2021)
مصطلحات موضوعية: orthobunyavirus, arbovirus, Jamestown Canyon virus, encephalitis, rituximab, metagenomic next-generation sequencing, Medicine, Infectious and parasitic diseases, RC109-216
وصف الملف: electronic resource
العلاقة: https://wwwnc.cdc.gov/eid/article/27/1/20-3448_articleTest; https://doaj.org/toc/1080-6040Test; https://doaj.org/toc/1080-6059Test
-
6دورية أكاديميةBET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy
المؤلفون: Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Svetlana Gorokhova, Janelle Geist Hauserman, Beryl B Cummings, Ying Hu, Rosemarie Smith, Prech Uapinyoying, Vijay S Ganesh, Partha S Ghosh, Kristin G Monaghan, Seby L Edassery, Pia E Ferle, Sarah Silverstein, Katherine R Chao, Molly Snyder, Sara Ellingwood, Diana Bharucha‐Goebel, Susan T Iannaccone, Matteo Dal Peraro, A Reghan Foley, Jeffrey N Savas, Véronique Bolduc, Dirk Fasshauer, Carsten G Bönnemann, Michael Schwake
المصدر: EMBO Molecular Medicine, Vol 13, Iss 12, Pp n/a-n/a (2021)
مصطلحات موضوعية: BET1, epilepsy, GOSR2, muscular dystrophy, SNARE, Medicine (General), R5-920, Genetics, QH426-470
العلاقة: https://doi.org/10.15252/emmm.202013787Test; https://doaj.org/toc/1757-4676Test; https://doaj.org/toc/1757-4684Test; https://doaj.org/article/36e02f0c64b8417881fabf19320857cfTest
الإتاحة: https://doi.org/10.15252/emmm.202013787Test
https://doaj.org/article/36e02f0c64b8417881fabf19320857cfTest -
7
المؤلفون: Samantha M. Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth E. Blue, Lisa H. Chadwick, Zeynep H. Coban-Akdemir, Kimberly F. Doheny, Colleen P. Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Heidi L. Rehm, Anne O’Donnell-Luria, Marcia Adams, François Aguet, Gulsen Akay, Peter Anderson, Corina Antonescu, Harindra M. Arachchi, Mehmed M. Atik, Christina A. Austin-Tse, Larry Babb, Tamara J. Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilguvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel Calame, Ian M. Campbell, Xiaolong Cao, Claudia Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Ivan K. Chinn, Declan Clarke, Ryan L. Collins, Beryl Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie P. DiTroia, Harshavardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid Fatih, Adam Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay S. Ganesh, Kiran V. Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga-Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey J. Hall, Adam Hansen, Tamar Harel, Arif O. Harmanci, Isabella Herman, Kurt Hetrick, Hadia Hijazi, Martha Horike-Pyne, Elvin Hsu, Jianhong Hu, Yongqing Huang, Jameson R. Hurless, Steve Jahl, Gail P. Jarvik, Yunyun Jiang, Eric Johanson, Angad Jolly, Ender Karaca, Michael Khayat, James Knight, J. Thomas Kolar, Sushant Kumar, Seema Lalani, Kristen M. Laricchia, Kathryn E. Larkin, Suzanne M. Leal, Gabrielle Lemire, Richard A. Lewis, He Li, Hua Ling, Rachel B. Lipson, Pengfei Liu, Alysia Kern Lovgren, Francesc López-Giráldez, Melissa P. MacMillan, Brian E. Mangilog, Stacy Mano, Dana Marafi, Beth Marosy, Jamie L. Marshall, Renan Martin, Colby T. Marvin, Michelle Mawhinney, Sean McGee, Daniel J. McGoldrick, Michelle Mehaffey, Betselote Mekonnen, Xiaolu Meng, Tadahiro Mitani, Christina Y. Miyake, David Mohr, Shaine Morris, Thomas E. Mullen, David R. Murdock, Mullai Murugan, Donna M. Muzny, Ben Myers, Juanita Neira, Kevin K. Nguyen, Patrick M. Nielsen, Natalie Nudelman, Emily O’Heir, Melanie C. O’Leary, Chrissie Ongaco, Jordan Orange, Ikeoluwa A. Osei-Owusu, Ingrid S. Paine, Lynn S. Pais, Justin Paschall, Karynne Patterson, Davut Pehlivan, Benjamin Pelle, Samantha Penney, Jorge Perez de Acha Chavez, Emma Pierce-Hoffman, Cecilia M. Poli, Jaya Punetha, Aparna Radhakrishnan, Matthew A. Richardson, Eliete Rodrigues, Gwendolin T. Roote, Jill A. Rosenfeld, Erica L. Ryke, Aniko Sabo, Alice Sanchez, Isabelle Schrauwen, Daryl A. Scott, Fritz Sedlazeck, Jillian Serrano, Chad A. Shaw, Tameka Shelford, Kathryn M. Shively, Moriel Singer-Berk, Joshua D. Smith, Hana Snow, Grace Snyder, Matthew Solomonson, Rachel G. Son, Xiaofei Song, Pawel Stankiewicz, Taylorlyn Stephan, V. Reid Sutton, Abigail Sveden, Diana Cornejo Sánchez, Monica Tackett, Michael Talkowski, Machiko S. Threlkeld, Grace Tiao, Miriam S. Udler, Laura Vail, Zaheer Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo S. Wang, Gao Wang, Lu Wang, Michael F. Wangler, Nicholas A. Watts, Ben Weisburd, Jeffrey M. Weiss, Marsha M. Wheeler, Janson J. White, Clara E. Williamson, Michael W. Wilson, Wojciech Wiszniewski, Marjorie A. Withers, Dane Witmer, Lauren Witzgall, Elizabeth Wohler, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Nan Wu, Jinchuan Xing, Yaping Yang, Qian Yi, Bo Yuan, Jordan E. Zeiger, Chaofan Zhang, Peng Zhang, Yan Zhang, Xiaohong Zhang, Yeting Zhang, Shifa Zhang, Huda Zoghbi, Igna van den Veyver
المصدر: Genet Med
مصطلحات موضوعية: Phenotype, Exome Sequencing, Humans, Exome, Genomics, Article, Genetic Association Studies, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b797c7738329d28c572a5aa99b98ff15Test
https://doi.org/10.1016/j.gim.2021.12.005Test -
8
المؤلفون: Marie Rivera-Zengotita, Alison M. Barnard, Sanna Puusepp, Anna Łusakowska, Ros Quinlivan, Margherita Milone, Isabelle Draper, Katherine R. Chao, Erica L. Macke, Mait Nigul, Teepu Siddique, Vijay S. Ganesh, Sander Pajusalu, Nicolas Deconinck, Sanna Gudmundsson, Masashi Ogasawara, Sandra Donkervoort, Christine C. Bruels, Glenn A. Walter, Ehsan Ghayoor Karimiani, Christina A. Pacak, Reza Maroofian, Sabine Costagliola, Julia K. Goodrich, Anne H. O’Donnell-Luria, Mehran Beiraghi Toosi, Sandra Coppens, Yao Meng, Lynn Pais, Henry Houlden, Eleina M. England, Rasha El Sherif, Anne Boland-Auge, Bertold Schrank, Volker Straub, Gisèle Bonne, Catheline Vilain, Payam Mohassel, Tanya Stojkovic, Isabelle Nelson, Ichizo Nishino, Stefan Nicolau, Anna Kostera-Pruszczyk, Ben Weisburd, Jean-François Deleuze, Enzo Cohen, Michael G. Hanna, Hazim Kadhim, Peter B. Kang, Dorianmarie Vargas-Franco, Penny A. Handford, Katrin Õunap, Pilvi Ilves, Ana Töpf, Carsten G. Bönnemann, Brendan C. Lanpher, Eric W. Klee, Andreas Hahn
المصدر: The American Journal of Human Genetics
Am J Hum Genetمصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, Muscular Dystrophies, Myoblasts, Mice, 0302 clinical medicine, Drosophila Proteins, Muscular dystrophy, Child, Genetics (clinical), Genetics, Receptors, Notch, Myogenesis, Muscles, Middle Aged, Pedigree, Drosophila melanogaster, Phenotype, medicine.anatomical_structure, Glucosyltransferases, Child, Preschool, Female, Jagged-2 Protein, medicine.symptom, Signal Transduction, Adult, JAG2, JAG1, Adolescent, Notch signaling pathway, Biology, Article, Cell Line, Frameshift mutation, Young Adult, 03 medical and health sciences, Exome Sequencing, medicine, Animals, Humans, Amino Acid Sequence, Correction, Membrane Proteins, Muscle weakness, Skeletal muscle, medicine.disease, Human genetics, 030104 developmental biology, Haplotypes, Jagged-1 Protein, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de5cf77949f159f13e3db961570ab30bTest
https://doi.org/10.1016/j.ajhg.2021.03.020Test -
9
المؤلفون: Anne Piantadosi, Steve Miller, Darlene Morse, J. Erin Staples, Xianding Deng, Jana M. Ritter, Michael R. Wilson, Isaac H. Solomon, Vijay S. Ganesh, Shibani S. Mukerji, Guixia Yu, Charles Y. Chiu, Justin Linxweiler, Holly R. Hughes, Tracey A. Milligan, Pardis C. Sabeti, Carolyn V. Gould, Abigail A Mathewson
المصدر: Emerging infectious diseases, vol 27, iss 1
Emerging Infectious Diseases
Emerging Infectious Diseases, Vol 27, Iss 1, Pp 238-242 (2021)مصطلحات موضوعية: Male, Pathology, Epidemiology, encephalitis, vector-borne infections, lcsh:Medicine, Antibodies, Viral, California, Fatal Case of Chronic Jamestown Canyon Virus Encephalitis Diagnosed by Metagenomic Sequencing in a Patient Receiving Rituximab, rituximab, 0302 clinical medicine, Cerebrospinal fluid, Viral, 030212 general & internal medicine, Jamestown Canyon virus, biology, Dispatch, Middle Aged, metagenomic next-generation sequencing, Infectious Diseases, Medical Microbiology, Public Health and Health Services, Rituximab, Encephalitis, medicine.drug, Microbiology (medical), medicine.medical_specialty, Clinical Sciences, 030231 tropical medicine, Encephalitis Virus, California, Microbiology, Arbovirus, Antibodies, Deep sequencing, Orthobunyavirus, lcsh:Infectious and parasitic diseases, orthobunyavirus, 03 medical and health sciences, Encephalitis, California, medicine, Humans, lcsh:RC109-216, viruses, business.industry, lcsh:R, Neurosciences, Encephalitis Virus, medicine.disease, biology.organism_classification, arbovirus, monoclonal antibody, Metagenomics, Metagenome, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::690a9ac579f948cead2449571328ca3dTest
https://doi.org/10.3201/eid2701.203448Test -
10
المؤلفون: Catherine M. Brown, Molly L Paras, Lin H. Chen, Scott Hennigan, Cormac M. Kinsella, Sandra Smole, Daniel P. McQuillen, Ruta Shah, Anne Piantadosi, Matthew Osborne, Justin Chan, Samar B. Mehta, Pardis C. Sabeti, Vijay S. Ganesh, Frederic Halpern-Smith
المساهمون: Graduate School, AII - Infectious diseases
المصدر: Emerging Microbes & Infections
Emerging microbes and infections, 9(1), 903-912. Nature Publishing Groupمصطلحات موضوعية: Male, 0301 basic medicine, Epidemiology, encephalitis, Ochlerotatus, viruses, Disease Vectors, Serology, Drug Discovery, diagnostics, Prevalence, Vector (molecular biology), Phylogeny, Jamestown Canyon virus, biology, meningitis, virus diseases, General Medicine, Middle Aged, Infectious Diseases, Massachusetts, RNA, Viral, Original Article, Female, Meningitis, Encephalitis, Adult, medicine.medical_specialty, 030106 microbiology, Immunology, Encephalitis Virus, California, Genome, Viral, Mosquito Vectors, Microbiology, Arbovirus, 03 medical and health sciences, Virology, medicine, Animals, Humans, Aged, medicine.disease, biology.organism_classification, arbovirus, Culicidae, 030104 developmental biology, Parasitology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b20f54fe905845e2962babe0fffa2006Test
https://doi.org/10.1080/22221751.2020.1756697Test