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1
المصدر: Current Protocols. 2
مصطلحات موضوعية: Medical Laboratory Technology, Genome, Phenotype, DNA Copy Number Variations, General Immunology and Microbiology, General Neuroscience, Databases, Genetic, Humans, Health Informatics, Genomics, General Pharmacology, Toxicology and Pharmaceutics, General Biochemistry, Genetics and Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68276ff055a32374396efcada178f649Test
https://doi.org/10.1002/cpz1.530Test -
2
المؤلفون: Joanna S. Amberger, Alan F. Scott
المصدر: American Journal of Medical Genetics Part A. 185:3276-3283
مصطلحات موضوعية: Genetics, Genetics, Medical, Databases, Genetic, Genetic Diseases, Inborn, MEDLINE, Humans, History, 20th Century, Biology, History, 21st Century, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::624324294da8a44ce35bfedbdc6483f9Test
https://doi.org/10.1002/ajmg.a.62415Test -
3
المصدر: American Journal of Medical Genetics. Part a
مصطلحات موضوعية: gene‐phenotype relationship, History, Genetics, Medical, Mendelian Inheritance in Man, history of medicine, Chromosome Mapping, single‐gene conditions, Original Articles, History, 20th Century, History, 21st Century, Genealogy, Magnum opus, symbols.namesake, Databases, Genetic, Genetics, OMIM : Online Mendelian Inheritance in Man, Mendelian inheritance, symbols, Humans, Original Article, OMIM, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::743f5effb6ce30bad62953618711a740Test
https://doi.org/10.1002/ajmg.a.62407Test -
4
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: Ariel Pomputius, Ada Hamosh, Joanna S. Amberger, Sonja A. Rasmussen
المصدر: Am J Med Genet A
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, History, Genome, Human, Genetics, Medical, Specialty, 030105 genetics & heredity, History, 20th Century, History, 21st Century, Genealogy, Human genetics, United States, Article, 03 medical and health sciences, 030104 developmental biology, New england, Databases, Genetic, Human Genome Project, Genetics, medicine, OMIM : Online Mendelian Inheritance in Man, Medical genetics, Humans, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a27862e0d7a9a490e9bfc0f923e34e7aTest
https://pubmed.ncbi.nlm.nih.gov/34159717Test -
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المؤلفون: Ada Hamosh, Helen V. Firth, Peter N. Robinson, Joanna S. Amberger, Nara Sobreira, Melissa Haendel, Wayne W. Grody, Garry R. Cutting, David Valle, Richard A. Gibbs, Lynn M. Schriml, Jennifer E. Posey, Christopher G. Chute, Carol A. Bocchini, Carol J. Bult, Sonja A. Rasmussen, Harry C. Dietz, Joann Bodurtha, James R. Lupski, Nan Wu, Alan F. Scott
المصدر: The American Journal of Human Genetics. 108:1807-1808
مصطلحات موضوعية: medicine.medical_specialty, Genetics, medicine, MEDLINE, Biology, Dermatology, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7606b095f3428b60d98b92728dbe4f08Test
https://doi.org/10.1016/j.ajhg.2021.07.004Test -
7
المؤلفون: Joanna S. Amberger, Carol A. Bocchini, Alan F. Scott, Ada Hamosh
المصدر: Nucleic Acids Research
مصطلحات موضوعية: medicine.medical_specialty, Genetics, Medical, Inheritance Patterns, Information Storage and Retrieval, Computational biology, Biology, Unique identifier, 03 medical and health sciences, 0302 clinical medicine, Databases, Genetic, Genetics, OMIM : Online Mendelian Inheritance in Man, medicine, Humans, Database Issue, Genetic Predisposition to Disease, Gene, Genetic Association Studies, 030304 developmental biology, Internet, 0303 health sciences, Gene map, Genetic heterogeneity, Genetic Diseases, Inborn, Morbid map, Computational Biology, Genomics, Phenotype, Medical genetics, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52273ef8bbca92ba567ed3c8227279c1Test
https://doi.org/10.1093/nar/gky1151Test -
8
المؤلفون: Arina Puzriakova, Charlotte Rodwell, Kelly Radtke, Alison J. Coffey, Fiona Cunningham, Angharad M. Roberts, Sarah Leigh, Joanna S. Amberger, Erin Rooney Riggs, Ana Rath, Christina Austin Tse, Michael Yates, Marina T. DiStefano, Ada Hamosh, James S. Ware, Annie Olry, Jennifer L. Goldstein, Carol Bocchini, Eleanor Williams, Catherine E. Snow, Christa Lese Martin, Scott R. Goehringer, Heidi L. Rehm, Matthew E. Hurles, David R. FitzPatrick, Ivone U. S. Leong, Elspeth A. Bruford, Ellen M. McDonagh, Jackie Tahiliani, Helen V. Firth, Zornitza Stark, Caroline F. Wright, Ewan Birney, Jonathan S. Berg, Erin M. Ramos, Marie Balzotti, Heather Collins
المصدر: Molecular Genetics and Metabolism. 132:S224-S225
مصطلحات موضوعية: World Wide Web, Endocrinology, Computer science, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b37573c9f691c96fec532f4214337271Test
https://doi.org/10.1016/s1096-7192Test(21)00430-3 -
9دورية أكاديمية
المساهمون: The Pennsylvania State University CiteSeerX Archives
المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/66/45/Nucleic_Acids_Res_2005_Jan_1_33(Database_Issue)_D514-D517.tar.gz
مصطلحات موضوعية: counterpart, Online Mendelian Inheritance in Man
وصف الملف: application/zip
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المصدر: Nucleic Acids Research
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Computational biology, Biology, Genome, 03 medical and health sciences, 0302 clinical medicine, Human Phenotype Ontology, Databases, Genetic, Genetics, OMIM : Online Mendelian Inheritance in Man, otorhinolaryngologic diseases, Database Issue, Humans, 030304 developmental biology, 0303 health sciences, Internet, integumentary system, Genetic heterogeneity, Extramural, Unified Medical Language System, Morbid map, Genetic Diseases, Inborn, eye diseases, Phenotype, Genes, Human genome, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1b18c71cd33fbfa3151edd97a9eefafTest
http://europepmc.org/articles/PMC4383985Test
