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1دورية أكاديمية
المؤلفون: Leigh C. Carmody, Hannah Blau, Daniel Danis, Xingman A. Zhang, Jean-Philippe Gourdine, Nicole Vasilevsky, Peter Krawitz, Miles D. Thompson, Peter N. Robinson
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-13 (2020)
مصطلحات موضوعية: GPI-anchor, Glycosylphosphatidylinositols, Congenital disorders of glycosylation, Human phenotype ontology, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Shrikanta Chattopadhyay, Alison L. Stewart, Siddhartha Mukherjee, Cherrie Huang, Kimberly A. Hartwell, Peter G. Miller, Radhika Subramanian, Leigh C. Carmody, Rushdia Z. Yusuf, David B. Sykes, Joshiawa Paulk, Amedeo Vetere, Sonia Vallet, Loredana Santo, Diana D. Cirstea, Teru Hideshima, Vlado Dančík, Max M. Majireck, Mahmud M. Hussain, Shambhavi Singh, Ryan Quiroz, Jonathan Iaconelli, Rakesh Karmacharya, Nicola J. Tolliday, Paul A. Clemons, Malcolm A.S. Moore, Andrew M. Stern, Alykhan F. Shamji, Benjamin L. Ebert, Todd R. Golub, Noopur S. Raje, David T. Scadden, Stuart L. Schreiber
المصدر: Cell Reports, Vol 10, Iss 5, Pp 755-770 (2015)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2211124715000303Test; https://doaj.org/toc/2211-1247Test
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3دورية أكاديمية
المؤلفون: Daniel Danis, Julius O B Jacobsen, Alex H Wagner, Tudor Groza, Martha A Beckwith, Lauren Rekerle, Leigh C Carmody, Justin Reese, Harshad Hegde, Markus S Ladewig, Berthold Seitz, Monica Munoz-Torres, Nomi L Harris, Jordi Rambla, Michael Baudis, Christopher J Mungall, Melissa A Haendel, Peter N Robinson
المصدر: PLoS ONE, Vol 18, Iss 5, p e0285433 (2023)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1932-6203Test
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4دورية أكاديمية
المؤلفون: Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellanos, J Harry Caufield, Lauren E Chan, Christopher G Chute, Jaime Cruz-Rojo, Noémi Dahan-Oliel, Jon R Davids, Maud de Dieuleveult, Vinicius de Souza, Bert BA de Vries, Esther de Vries, J Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander JM Dingemans, Bruno Donadille, Michael Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberly Gilmour, Jessica Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Guthrie, Benjamin Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun Oliver He, Harshad Hegde, Ingo Helbig, Kateřina Holasová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius OB Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A Koolen, Megan L Kraus, Carlo Kroll, Maaike Kusters, Markus S Ladewig, David Lagorce, Meng-Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis-Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L Marazita, Victor Martinez-Glez, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Mihulová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julian Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, John I Nurnberger, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perez de Nanclares, Amy Peters, Tim Putman, Christina K Rapp, Ana Rath, Justin Reese, Lauren Rekerle, Angharad M Roberts, Suzy Roy, Stephan J Sanders, Catharina Schuetz, Eva C Schulte, Thomas G Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N Similuk, Eric S Simon, Balwinder Singh, Damian Smedley, Cynthia L Smith, Jake T Smolinsky, Sarah Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair A Tenorio Castano, Pavel Tesner, Rhys H Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ron Wapner, James S Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot J Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher J Mungall, Sebastian Köhler, Melissa A Haendel, Peter N Robinson
مصطلحات موضوعية: Biological sciences, Chemical sciences, Environmental sciences, Information and computing sciences, Uncategorised value
العلاقة: 10779/DRO/DU:24562858.v1; https://figshare.com/articles/journal_contribution/The_Human_Phenotype_Ontology_in_2024_phenotypes_around_the_world/24562858Test
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المؤلفون: Ferdinand Dhombres, Patricia Morgan, Bimal P. Chaudhari, Isabel Filges, Teresa N. Sparks, Pablo Lapunzina, Tony Roscioli, Umber Agarwal, Shagun Aggarwal, Claire Beneteau, Pilar Cacheiro, Leigh C. Carmody, Sophie Collardeau‐Frachon, Esther A. Dempsey, Andreas Dufke, Michael Henri Duyzend, Mirna el Ghosh, Jessica L. Giordano, Ragnhild Glad, Ieva Grinfelde, Dominic G. Iliescu, Markus S. Ladewig, Monica C. Munoz‐Torres, Marzia Pollazzon, Francesca Clementina Radio, Carlota Rodo, Raquel Gouveia Silva, Damian Smedley, Jagadish Chandrabose Sundaramurthi, Sabrina Toro, Irene Valenzuela, Nicole A. Vasilevsky, Ronald J. Wapner, Roni Zemet, Melissa A Haendel, Peter N. Robinson
المساهمون: Institut Català de la Salut, [Dhombres F] Sorbonne University, GRC26, INSERM, Limics, Armand Trousseau Hospital, Fetal Medicine Department, APHP, Paris, France. [Morgan P] American College of Medical Genetics and Genomics, Newborn Screening Translational Research Network, Bethesda, USA. [Chaudhari BP] Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, USA. [Filges I] University Hospital Basel and University of Basel, Medical Genetics, Basel, Switzerland. [Sparks TN] Department of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, California, USA. [Lapunzina P] CIBERER and Hospital Universitario La Paz, INGEMM-Institute of Medical and Molecular Genetics, Madrid, Spain. [Rodo C] Grup de Recerca en Medicina Materna i Fetal, Vall d'Hebron Hospital Universitari, Barcelona, Spain. [Valenzuela I] Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Laboratoire d'Informatique Médicale et Ingénierie des Connaissances en e-Santé (LIMICS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Sorbonne Paris Nord, American College of Medical Genetics and Genomics [Bethesda, MD, USA] (ACM2G), Nationwide Children's Hospital, University Hospital Basel [Basel], University of Basel (Unibas), University of California [San Francisco] (UC San Francisco), University of California (UC), CIBER de Enfermedades Raras (CIBERER), Hospital Universitario La Paz, University of New South Wales [Canberra Campus] (UNSW), Liverpool Women's NHS Foundation Trust, Nizam's Institute of Medical Sciences (NIMS), Centre hospitalier universitaire de Nantes (CHU Nantes), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Queen Mary University of London (QMUL), The Jackson Laboratory [Bar Harbor] (JAX), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Société Française de Foetopathologie [Paris] (SOFFOET), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), St George's, University of London, University of Tübingen, Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Columbia University Irving Medical Center (CUIMC), University Hospital of North Norway [Tromsø] (UNN), Children's Clinical University Hospital [Riga, Latvia] (CCUH), University of Medicine and Pharmacy of Craiova, Saarland University Hospital (UKS), University of Colorado Anschutz [Aurora], AUSL di Reggio Emilia Istituto di Ricerca a Carattere Clinico Scientifico [Reggio Emilia, Italie], IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Vall d'Hebron University Hospital [Barcelona], Hospital de Santa Maria [Lisboa], Centro Hospitalar Universitário Lisboa Norte [Lisbon, Portugal] (CHULN), Baylor College of Medicine (BCM), Baylor University, CarMeN, laboratoire
المصدر: American journal of medical genetics. Part C, Seminars in medical genetics, vol 190, iss 2
Scientia
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2022, 190 (2), pp.231-242. ⟨10.1002/ajmg.c.31989⟩مصطلحات موضوعية: prenatal phenotyping, [SDV]Life Sciences [q-bio], Placenta, Clinical Sciences, Diagnòstic prenatal, fetal pathology, Reproductive health and childbirth, afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras [ENFERMEDADES], Rare Diseases, Pregnancy, Clinical Research, Exome Sequencing, Genetics, Humans, Genetics (clinical), Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Techniques, Obstetrical and Gynecological::Prenatal Diagnosis [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Pediatric, Genetics & Heredity, diagnóstico::técnicas y procedimientos diagnósticos::técnicas diagnósticas obstétricas y ginecológicas::diagnóstico prenatal [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], screening and diagnosis, prenatal diagnosis, Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases [DISEASES], Prevention, Human Genome, Infant, Newborn, Computational Biology, Infant, Perinatal Period - Conditions Originating in Perinatal Period, Newborn, 4.1 Discovery and preclinical testing of markers and technologies, [SDV] Life Sciences [q-bio], Fenotip, Detection, Phenotype, Good Health and Well Being, Neurological, Genetic Phenomena::Phenotype [PHENOMENA AND PROCESSES], GA4GH Phenopacket, Congenital Structural Anomalies, Female, Hpo, HPO, Malalties rares, fenómenos genéticos::fenotipo [FENÓMENOS Y PROCESOS], human phenotype ontology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7868c6e2a3c2cf8b86d012bff20253c5Test
https://escholarship.org/uc/item/9m25x832Test -
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المؤلفون: Nicole A Vasilevsky, Nicolas A Matentzoglu, Sabrina Toro, Joseph E Flack, Harshad Hegde, Deepak R Unni, Gioconda F Alyea, Joanna S Amberger, Larry Babb, James P Balhoff, Taylor I Bingaman, Gully A Burns, Orion J Buske, Tiffany J Callahan, Leigh C Carmody, Paula Carrio Cordo, Lauren E Chan, George S Chang, Sean L Christiaens, Michel Dumontier, Laura E Failla, May J Flowers, H. Alpha Garrett, Jennifer L Goldstein, Dylan Gration, Tudor Groza, Marc Hanauer, Nomi L Harris, Jason A Hilton, Daniel S Himmelstein, Charles Tapley Hoyt, Megan S Kane, Sebastian Köhler, David Lagorce, Abbe Lai, Martin Larralde, Antonia Lock, Irene López Santiago, Donna R Maglott, Adriana J Malheiro, Birgit H M Meldal, Monica C Munoz-Torres, Tristan H Nelson, Frank W Nicholas, David Ochoa, Daniel P Olson, Tudor I Oprea, David Osumi-Sutherland, Helen Parkinson, Zoë May Pendlington, Ana Rath, Heidi L Rehm, Lyubov Remennik, Erin R Riggs, Paola Roncaglia, Justyne E Ross, Marion F Shadbolt, Kent A Shefchek, Morgan N Similuk, Nicholas Sioutos, Damian Smedley, Rachel Sparks, Ray Stefancsik, Ralf Stephan, Andrea L Storm, Doron Stupp, Gregory S Stupp, Jagadish Chandrabose Sundaramurthi, Imke Tammen, Darin Tay, Courtney L Thaxton, Eloise Valasek, Jordi Valls-Margarit, Alex H Wagner, Danielle Welter, Patricia L Whetzel, Lori L Whiteman, Valerie Wood, Colleen H Xu, Andreas Zankl, Xingmin Aaron Zhang, Christopher G Chute, Peter N Robinson, Christopher J Mungall, Ada Hamosh, Melissa A Haendel
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::eb95e9f275c4c5ac6590aa22f6896dbbTest
https://doi.org/10.1101/2022.04.13.22273750Test -
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المؤلفون: Damian Smedley, Melissa A. Haendel, Leigh C. Carmody, Michael A. Gargano, Guy Karlebach, Julie A. McMurry, Courtney Thaxton, Peter N. Robinson, Justin T. Reese, Manuel Holtgrewe, Daniel Danis, Unc Biocuration Core, Xingmin Aaron Zhang, Julius O.B. Jacobsen, Sebastian Köhler, Vida Ravanmehr
المصدر: Am J Hum Genet
مصطلحات موضوعية: Computer science, Disease, Computational biology, Article, 03 medical and health sciences, symbols.namesake, Rare Diseases, Databases, Genetic, Human Phenotype Ontology, Genetics, Humans, Exome, Medical diagnosis, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, 030305 genetics & heredity, Rank (computer programming), Computational Biology, Genomics, Phenotype, Ranking, Likelihood-ratio test, Mendelian inheritance, symbols, Algorithms, Software
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8a41f03ad9a1789689b6277c3dbc3bbTest
https://doi.org/10.1016/j.ajhg.2020.06.021Test -
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المؤلفون: Joel H. Saltz, Tellen D. Bennett, Emily R. Pfaff, George D. Vavougios, Sebastian Köhler, Joel J. Gagnier, Melissa Haendel, Chen Liang, Madeline A Rock, Peter N. Robinson, Anupam A Sule, Farrukh M. Koraishy, Carolyn T. Bramante, Julian Solway, Hongfang Liu, Umit Topaloglu, Heidi Spratt, Douglas S McNair, Tiffany J. Callahan, Teshamae S. Monteith, Wesley Kimble, Lauren E Chan, Julie A. McMurry, James Brian Byrd, Casey S. Greene, Richard A. Moffitt, Alfred J. Anzalone, Ann M. Parker, Ben Coleman, Mallory A Perry, Charisse R. Madlock-Brown, Robert A Schuff, Feifan Liu, Rachel R Deer, Vithal Madhira, Hannah E. Davis, Marc D. Basson, Timothy Bergquist, Halie M. Rando, Ramakanth Kavuluru, Diego R. Mazzotti, Nicole Vasilevsky, Anthony Solomonides, Liwei Wang, Leigh C. Carmody, Nicolas Matentzoglu, Eilis A. Boudreau, Justin T. Reese, Gary S. Stein, William B. Hillegass, Christopher G. Chute, Haitao Chu
المصدر: EBioMedicine, Vol 74, Iss, Pp 103722-(2021)
EBioMedicineمصطلحات موضوعية: medicine.medical_specialty, Medicine (General), Medical terminology, phenotyping, Coronavirus disease 2019 (COVID-19), media_common.quotation_subject, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), General Biochemistry, Genetics and Molecular Biology, Terminology, Presentation, Post-Acute COVID-19 Syndrome, R5-920, Human Phenotype Ontology, medicine, Relevance (law), Humans, In patient, Intensive care medicine, long COVID, Organ system, media_common, Original Research, business.industry, SARS-CoV-2, Foundation (evidence), COVID-19, General Medicine, Natural history, Layperson, of post-acute sequelae of SARS-CoV-2, Medicine, business, human phenotype ontology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c80e9ea825d50530a246efe6491b6119Test
http://www.sciencedirect.com/science/article/pii/S2352396421005168Test -
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المؤلفون: Christopher J. Mungall, Rueter J, Marcin P. Joachimiak, Giovanni Bocci, Carol J. Bult, Ben Coleman, Fontana T, Hannah Blau, Joshy George, Tudor I. Oprea, Luca Cappelletti, Ravanmehr, Peter N. Robinson, Justin T. Reese, Leigh C. Carmody, Elena Casiraghi, Giorgio Valentini
مصطلحات موضوعية: Training set, Kinase, Supervised learning, polycyclic compounds, medicine, Cancer therapy, Cancer, Relevance (information retrieval), Computational biology, Biology, medicine.disease, Word (computer architecture), Random forest
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::88449162bf2b8154fc6225d5fe6d4bf1Test
https://doi.org/10.1101/2021.06.11.447943Test -
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المؤلفون: Steven Laurie, Teresinha Evangelista, Gulcin Gumus, Angela Lochmüller, Patrick F. Chinnery, Leigh C. Carmody, Gisèle Bonne, Hanns Lochmüller, Matthew J. Jennings, Thiloka Ratnaike, Rachel Thompson, Holm Graessner, Sergi Beltran, Leslie Matalonga, Carles Hernandez-Ferrer, Katherine Schon, Jean-François Desaphy, Peter N. Robinson, Virginie Bros-Facer, Carola Reinhard, Alberto Corvo, Rita Horvath, Matthis Synofzik, Bertrand Fontaine, Antonio Atalaia, David Gómez-Andrés, Davide Piscia, Katja Lohmann, Rabah Ben Yaou, Alfons Macaya, Olaf Riess, Birte Zurek
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-2 (2021)
Orphanet journal of rare diseases 16(1), 145 (2021). doi:10.1186/s13023-021-01777-6مصطلحات موضوعية: Computer science, Writing, lcsh:R, Pharmacology toxicology, lcsh:Medicine, Correction, General Medicine, Data science, Human genetics, Rare Diseases, Systematic review, Research Design, Humans, Pharmacology (medical), ddc:610, Genetics (clinical), Data Management, Systematic Reviews as Topic, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ee7f1a6694da6ec27b40c8e57474951Test
https://doi.org/10.1186/s13023-021-01777-6Test