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

المؤلفون: David Osumi-Sutherland, Monica C Munoz-Torres, Melissa A Haendel, Christopher J Mungall, Peter N Robinson, Damian Smedley, Sebastian Köhler, Tudor Groza, Julie A McMurry, Julius O B Jacobsen, Anne Thessen, Courtney Thaxon, Andrea L Storm, Morgan Similuk, Erik Segerdell, James Seager, Paola Roncaglia, Sofia Robb, Erin Riggs, Justin Reese, Vida Ravanmehr, Tim Putman, Clare Pilgrim, Zoë M Pendlington, Craig McNamara, Suzanna E Lewis, Kenneth B Lett, Simon Jupp, Marcin Joachimiak, Maureen Hoatlin, Ingo Helbig, Midori Harris, Ada Hamosh, Jean-Phillipe Gourdine, Chris Grove, Petra Fey, Shahim Essaid, Nathan Dunn, Maria Della Rocca, Alayne Cuzick, Valentina Cipriani, Lauren E Chan, Leigh Carmody, Seth Carbon, Yvonne Bradford, Hannah Blau, Susan M Bello, Larry Babb, James P Balhoff, Xingmin Aaron Zhang, Nicole Vasilevsky, Tom Conlin, Daniel Keith, Matthew Brush, Deepak Unni, Nicolas Matentzoglu, Michael Gargano, Nomi L Harris, Kent A Shefchek

المصدر: Nucleic Acids Research
Nucleic acids research, vol 48, iss D1

مصطلحات موضوعية: Biomedical, Genotype, Bioengineering, Translational Research, Biomedical, 03 medical and health sciences, Databases, User-Computer Interface, 0302 clinical medicine, Genetic, Information and Computing Sciences, Translational Research, Databases, Genetic, Genetics, 2.1 Biological and endogenous factors, Animals, Humans, Database Issue, Exome, Aetiology, Translational Medical Research, Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Internet, Computational Biology, Genetic Variation, Genomics, Biological Sciences, Good Health and Well Being, Phenotype, Networking and Information Technology R&D (NITRD), Biological Ontologies, Generic health relevance, 030217 neurology & neurosurgery, Environmental Sciences, Algorithms, Software, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc89d5ffcfb17b6eb9273bcc5e531b52Test
https://repository.rothamsted.ac.uk/download/a072544d9d20321676bd38dfb9051b7821ad99a76e7e02f6932584b33aae70ed/3960982/Shefchek-2020-The-monarch-initiative-in--an-integ.pdfTest

المؤلفون: Kayli Rageth, Cynthia L. Smith, Renske Oegema, Julius O.B. Jacobsen, Xingmin Aaron Zhang, Kathleen E. Sullivan, James P. Balhoff, Ayushi Hegde, David Osumi-Sutherland, Gareth Baynam, Rachel Thompson, Matthew T. Wheeler, Cornelius F. Boerkoel, Hélène Dollfus, Nomi L. Harris, Daniel Durkin, Dorothée Leroux, Joshua D. Milner, Melissa A. Haendel, Annie Olry, Dylan Gratian, Nicolas Matentzoglu, Anna Jansen, David Gómez-Andrés, Zafer Yüksel, Hugh Dawkins, Peter N. Robinson, Ruth C. Lovering, Luigi D. Notarangelo, Michael M. Segal, Maria G. Della Rocca, Sergio Rosenzweig, Julie A. McMurry, Catherine Hajek, Francisco Castellanos, Valentina Cipriani, Willie H. Chang, Sergi Beltran, Ahmed Muaz, Leigh C. Carmody, Marc Hanauer, Jenna R.E. Bergerson, Hanns Lochmüller, Halima Lourghi, Tom Conlin, Charlotte Cunningham-Rundles, James R. Priest, Richard Palmer, Shruti Marwaha, Panagiotis I. Sergouniotis, Amy D. Klion, Alexandra F. Freeman, Morgan Similuk, Michael Brudno, Melody C. Carter, Stanley J. F. Laulederkind, Michael A. Gargano, Susan M. Bello, Tudor Groza, Christopher J. Mungall, Damian Smedley, Hannah Blau, Daniel Danis, Jean-Philippe F. Gourdine, Sebastian Köhler, Murat Sincan, Ana Rath, Nicole Vasilevsky, Andrea L. Storm

المساهمون: Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, Pediatrics

المصدر: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Nucleic Acids Research, 47(D1), D1018. Oxford University Press
Nucleic Acids Research
Köhler, S, Carmody, L, Vasilevsky, N, Jacobsen, J O B, Danis, D, Gourdine, J P, Gargano, M, Harris, N L, Matentzoglu, N, McMurry, J A, Osumi-Sutherland, D, Cipriani, V, Balhoff, J P, Conlin, T, Blau, H, Baynam, G, Palmer, R, Gratian, D, Dawkins, H, Segal, M, Jansen, A C, Muaz, A, Chang, W H, Bergerson, J, Laulederkind, S J F, Yüksel, Z, Beltran, S, Freeman, A F, Sergouniotis, P I, Durkin, D, Storm, A L, Hanauer, M, Brudno, M, Bello, S M, Sincan, M, Rageth, K, Wheeler, M T, Oegema, R, Lourghi, H, Della Rocca, M G, Thompson, R, Castellanos, F, Priest, J, Cunningham-Rundles, C, Hegde, A, Lovering, R C, Hajek, C, Olry, A, Notarangelo, L & Similuk, M 2019, ' Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources ', Nucleic acids research, vol. 47, no. D1, pp. D1018-D1027 . https://doi.org/10.1093/nar/gky1105Test
Nucleic acids research, vol 47, iss D1
Recercat. Dipósit de la Recerca de Catalunya
instname

مصطلحات موضوعية: Vocabulary, media_common.quotation_subject, Knowledge Bases, Interoperability, Biology, Ontology (information science), Congenital Abnormalities, World Wide Web, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, Information and Computing Sciences, Human Phenotype Ontology, Databases, Genetic, Genetics, Database Issue, Humans, Genetic Predisposition to Disease, 030304 developmental biology, media_common, 0303 health sciences, Internet, Whole Genome Sequencing, business.industry, Computational Biology, Genetic Variation, Biological Ontologies, Biological Sciences, 3. Good health, Phenotype, Knowledge base, The Internet, business, Environmental Sciences, 030217 neurology & neurosurgery, Developmental Biology, De facto standard

وصف الملف: application/pdf; image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64b257ee3ebfb3ae3e9ecbc4f0bc47edTest
https://ddd.uab.cat/record/223246Test

المؤلفون: Sulagna C. Saitta, Marzena Gajecka, Barbara K. Burton, Bassem A. Bejjani, Wen-Hann Tan, Lisa G. Shaffer, Judith A. Martin, Virginia Kimonis, Hagit N. Baris, Andrea L. Storm, Mira Irons, Blake C. Ballif, David L. Coulter

المصدر: American Journal of Medical Genetics Part A. :1876-1879

مصطلحات موضوعية: Male, Genetics, Polymorphism, Genetic, Developmental Disabilities, Infant, Membrane Proteins, Proteins, Biology, Speech Disorders, Cytoskeletal Proteins, Child, Preschool, Chromosomes, Human, Pair 2, Gene Duplication, Gene duplication, Humans, Female, NEPHRONOPHTHISIS 1, Child, Gene, In Situ Hybridization, Fluorescence, Genetics (clinical), Adaptor Proteins, Signal Transducing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e15161e1ea60777484910833c8eeb471Test
https://doi.org/10.1002/ajmg.a.31390Test

المؤلفون: Louanne Hudgins, Bruce Blumberg, Margaret P Adam, Kim M. Keppler-Noreuil, John Graham, Renata C. Gallagher, Susan Schelley, Joseph T. Shieh, April N. Brady, Madelena Martin, Kimberly Barr, Anne Slavotinek, Andrea L. Storm

المصدر: American Journal of Medical Genetics Part A. :2730-2741

مصطلحات موضوعية: Adult, Male, Microcephaly, medicine.medical_specialty, Pediatrics, Adolescent, Mowat–Wilson syndrome, Pulmonary Artery, Craniofacial Abnormalities, Seizures, Intellectual Disability, Internal medicine, Genetics, medicine, Humans, Abnormalities, Multiple, Language Development Disorders, Hirschsprung Disease, Hypertelorism, Child, Agenesis of the corpus callosum, Genetics (clinical), Zinc Finger E-box Binding Homeobox 2, Homeodomain Proteins, business.industry, Incidence (epidemiology), Infant, Newborn, Infant, Syndrome, Pulmonary artery sling, medicine.disease, Repressor Proteins, Endocrinology, Hypospadias, Child, Preschool, Female, Agenesis of Corpus Callosum, medicine.symptom, business, Haploinsufficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4524de4d24ba620c68aabef3d6adce7Test
https://doi.org/10.1002/ajmg.a.31530Test

المؤلفون: Andrea L Storm, Beverly S. Emanuel, Sucheta Bhatt, Viera Kasparcova, Donna M. McDonald-McGinn, Timothy C Drumheller, Elaine H. Zackai, Scott P. Bartlett, Karen W. Gripp, Catherine A. Stolle

المصدر: Genetics in Medicine. 3:102-108

مصطلحات موضوعية: Adult, Male, Adolescent, Twist gene, Chromosomal rearrangement, Biology, Diagnostic tools, Chromosomes, medicine, Humans, Sequence variation, Child, Gene, In Situ Hybridization, In Situ Hybridization, Fluorescence, Genetics (clinical), Southern blot, Genetics, Dose-Response Relationship, Drug, medicine.diagnostic_test, Twist-Related Protein 1, Infant, Newborn, Infant, Nuclear Proteins, Sequence Analysis, DNA, Acrocephalosyndactylia, medicine.disease, Molecular biology, Pedigree, Blotting, Southern, Child, Preschool, Karyotyping, Female, Saethre–Chotzen syndrome, Chromosomes, Human, Pair 7, Gene Deletion, Transcription Factors, Fluorescence in situ hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64e57dd678cd33ef5e8ee8a981df9b95Test
https://doi.org/10.1097/00125817-200103000-00003Test

المؤلفون: Christine M. Litwin, Kenneth J. Ryan, Andrea L. Storm, S. Chipowsky

المصدر: Journal of Clinical Microbiology. 29:104-108

مصطلحات موضوعية: Microbiology (medical), Shigella dysenteriae, Restriction Mapping, Population, medicine.disease_cause, Microbiology, Restriction fragment, Plasmid, Shigella flexneri, medicine, Humans, Shigella, Shigella sonnei, education, Dysentery, Bacillary, Shigella boydii, Genetics, Travel, education.field_of_study, biology, Arizona, DNA Restriction Enzymes, biology.organism_classification, biology.protein, Plasmids, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46df69923eb37f20a18b79e43fb45827Test
https://doi.org/10.1128/jcm.29.1.104-108.1991Test

المؤلفون: Glenn E. Green, Jason M. Johnson, Andrea L. Storm, Christopher Cunniff, Edward J. Lammer

المصدر: American journal of medical genetics. Part A. (2)

مصطلحات موضوعية: Male, Micrognathism, Condyle, stomatognathic system, Microstomia, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Genetics (clinical), Orthodontics, Family Health, Temporomandibular Joint, business.industry, Glossoptosis, Mandibular Condyle, Sleep apnea, Infant, Ear, Anatomy, Syndrome, medicine.disease, Hypoplasia, Temporomandibular joint, Pedigree, stomatognathic diseases, medicine.anatomical_structure, Agenesis, Child, Preschool, Face, Female, medicine.symptom, business, Malocclusion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f248d95dcea4242027d631b402d08c1dTest
https://pubmed.ncbi.nlm.nih.gov/16114046Test

المؤلفون: Christine M. Litwin, Kenneth J. Ryan, Stefan Chipowsky, Andrea L. Storm, S.C. McCombie

المصدر: The Journal of infectious diseases. 161(4)

مصطلحات موضوعية: Serotype, DNA, Bacterial, Shigellosis, Population, Shigella sonnei, Biology, medicine.disease_cause, Microbiology, Plasmid, medicine, Immunology and Allergy, Humans, Shigella, education, Mexico, Southern blot, Dysentery, Bacillary, Electrophoresis, Agar Gel, education.field_of_study, Travel, Molecular epidemiology, Incidence, Arizona, Nucleic Acid Hybridization, medicine.disease, Virology, Blotting, Southern, Infectious Diseases, DNA Probes, Plasmids

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::852f496e5c4c890f3fddbed04107e340Test
https://pubmed.ncbi.nlm.nih.gov/2181036Test