المؤلفون: Marina DiStefano, Joanna Amberger, Christina Austin-Tse, Marie Balzotti, Mutaz Amin, Jonathan Berg, Carol Bocchini, Elspeth Bruford, Fowzan Alkuraya, Alison Coffey, Heather Collins, Fiona Cunningham, Helen Firth, David Fitzpatrick, Yaron Einhorn, Jennifer Goldstein, Ada Hamosh, Sarah Leigh, Ivone Leong, Christa Martin, Ellen McDonagh, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, Jackie Tahiliani, James Ware, Eleanor Williams, Caroline Wright, Michael Yates, Phillip Weller, Heidi Rehm

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100498- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423004983Test; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/33db357776d94cb5babd1aacc95aaecdTest

المؤلفون: Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin-Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David R. Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew R. Hurles, Sarah E. Leigh, Ivone US. Leong, Sateesh Maddirevula, Christa L. Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, T Michael. Yates, Heidi L. Rehm

المساهمون: Wellcome Trust, British Heart Foundation

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 24(8)

مصطلحات موضوعية: Genetics & Heredity, GenCC, 0604 Genetics, Genetic Variation, 1103 Clinical Sciences, Genomics, Gene curation, Database, Genetic diagnosis, The Gene Curation Coalition, Databases, Genetic, Humans, Genetic Testing, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db382453c45f9da4d860229092aac16cTest
https://pubmed.ncbi.nlm.nih.gov/35507016Test

المؤلفون: Sonja A. Rasmussen, Ada Hamosh, Joanna Amberger, Cassandra Arnold, Carol Bocchini, Marla J.F. O‘Neill, Anne Stumpf

المصدر: Genetics in Medicine

مصطلحات موضوعية: Genetics, 2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), Extramural, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Comment, MEDLINE, Biology, Mendelian disorders, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::382419d17b9f8ef6a8ea7a2c43164d07Test
https://doi.org/10.1038/s41436-020-0851-0Test

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

المؤلفون: Johanna Christina Czeschik, Sebastian Köhler, Carol Bocchini, Julian Veldboer, Joanna S. Amberger, Damian Smedley, Peter N. Robinson, Ada Hamosh, Tomasz Zemojtel

المصدر: Bioinformatics

مصطلحات موضوعية: Statistics and Probability, Candidate gene, Sequence analysis, Medizin, Disease, Biology, Biochemistry, Interactome, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Protein Interaction Mapping, Humans, Exome, Molecular Biology, Gene, Exome sequencing, 030304 developmental biology, Genetics, 0303 health sciences, Genetics and Population Analysis, Proteins, Sequence Analysis, DNA, Original Papers, 3. Good health, Computer Science Applications, Computational Mathematics, Genes, Computational Theory and Mathematics, Mendelian inheritance, symbols, Algorithms, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49f86be9e71c5bb3335162344ab7a55eTest
https://www.ncbi.nlm.nih.gov/pubmed/25078397Test

المؤلفون: Joanna S. Amberger, Ada Hamosh, Carol Bocchini

المصدر: Human mutation. 32(5)

مصطلحات موضوعية: Genetics, Comparative Genomic Hybridization, Morbid map, Genetic Variation, Information Storage and Retrieval, Genome-wide association study, Biology, Genome, Genotype-phenotype distinction, Databases, Genetic, OMIM : Online Mendelian Inheritance in Man, Humans, Disease, Exome, Genetics (clinical), Comparative genomic hybridization, Genetic association, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c8043876cebc7be59b526d36e885965Test
https://pubmed.ncbi.nlm.nih.gov/21472891Test

المؤلفون: Victor A. McKusick, Peter Li, Peter L. Pearson, Patricia L. Foster, Clair A. Francomano, Carol Bocchini

مصطلحات موضوعية: Databases, Factual, Chromosome Disorders, Editorial board, Biology, DNA, Mitochondrial, Online Systems, Congenital Abnormalities, World Wide Web, Computer Communication Networks, Neoplasms, Genetics, OMIM : Online Mendelian Inheritance in Man, Humans, SGML, Structure (mathematical logic), Chromosome Aberrations, Genome, Human, Books, Subject (documents), computer.file_format, Variety (linguistics), Numbering, CD-ROM, computer

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd02f585f0284b12cfe0738a211a1d29Test
https://europepmc.org/articles/PMC308304Test/