-
1دورية أكاديمية
المؤلفون: Sunita M. C. De Sousa, Angeline Shen, Christopher J. Yates, Roderick Clifton-Bligh, Stephen Santoreneos, James King, John Toubia, Giampaolo Trivellin, Andrea G. Lania, Constantine A. Stratakis, David J. Torpy, Hamish S. Scott
المصدر: Frontiers in Endocrinology, Vol 14 (2023)
مصطلحات موضوعية: peptidylglycine α-amidating monooxygenase, whole exome sequencing, Cushing’s disease, prolactinoma, thyrotrophinoma, pituitary adenomas, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2023.1305606/fullTest; https://doaj.org/toc/1664-2392Test
-
2دورية أكاديمية
المؤلفون: Patricia J. Sullivan, Velimir Gayevskiy, Ryan L. Davis, Marie Wong, Chelsea Mayoh, Amali Mallawaarachchi, Yvonne Hort, Mark J. McCabe, Sarah Beecroft, Matilda R. Jackson, Peer Arts, Andrew Dubowsky, Nigel Laing, Marcel E. Dinger, Hamish S. Scott, Emily Oates, Mark Pinese, Mark J. Cowley
المصدر: Genome Biology, Vol 24, Iss 1, Pp 1-18 (2023)
مصطلحات موضوعية: Splicing, Variant interpretation, Deep intronic, Splice region, Splice site, Intronic variant, Biology (General), QH301-705.5, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1474-760XTest
-
3دورية أكاديمية
المؤلفون: Mithun Vinod Shah, Elizabeth Ngoc Hoa Tran, Syed Shah, Rakchha Chhetri, Anmol Baranwal, Dariusz Ladon, Carl Shultz, Aref Al-Kali, Anna L. Brown, Dong Chen, Hamish S. Scott, Patricia Greipp, Daniel Thomas, Hassan B. Alkhateeb, Deepak Singhal, Naseema Gangat, Sharad Kumar, Mrinal M. Patnaik, Christopher N. Hahn, Chung Hoow Kok, Ayalew Tefferi, Devendra K. Hiwase
المصدر: Blood Cancer Journal, Vol 13, Iss 1, Pp 1-9 (2023)
مصطلحات موضوعية: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2044-5385Test
-
4دورية أكاديمية
المؤلفون: Jiarna R. Zerella, Claire C. Homan, Peer Arts, Anna L. Brown, Hamish S. Scott, Christopher N. Hahn
المصدر: Frontiers in Oncology, Vol 13 (2023)
مصطلحات موضوعية: transcription factor, hematological malignancies (HM), bone marrow failure (BMF), germline, pathogenic variant, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fonc.2023.1183318/fullTest; https://doaj.org/toc/2234-943XTest
-
5دورية أكاديمية
المؤلفون: Naranie Shanmuganathan, Carol Wadham, NurHezrin Shahrin, Jinghua Feng, Daniel Thomson, Paul Wang, Verity Saunders, Chung Hoow Kok, Rob M. King, Rosalie R. Kenyon, Ming Lin, Ilaria S. Pagani, David M. Ross, Agnes S.M. Yong, Andrew P. Grigg, Anthony K. Mills, Anthony P. Schwarer, Jodi Braley, Haley Altamura, David T. Yeung, Hamish S. Scott, Andreas W. Schreiber, Timothy P. Hughes, Susan Branford
المصدر: Haematologica, Vol 108, Iss 9 (2023)
مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
العلاقة: https://haematologica.org/article/view/11027Test; https://doaj.org/toc/0390-6078Test; https://doaj.org/toc/1592-8721Test
-
6دورية أكاديمية
المؤلفون: Carla De Angelis, Alicia B. Byrne, Rebecca Morrow, Jinghua Feng, Thuong Ha, Paul Wang, Andreas W. Schreiber, Milena Babic, Ajay Taranath, Nick Manton, Sarah L. King-Smith, Quenten Schwarz, Peer Arts, Hamish S. Scott, Christopher Barnett
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)
مصطلحات موضوعية: LAMC3, Periventricular nodular heterotopia, Occipital, Lobe, Case report, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
-
7دورية أكاديمية
المؤلفون: Xuyu Qian, Ellen M DeGennaro, Maya Talukdar, Shyam K. Akula, Abbe Lai, Diane D. Shao, Dilenny M. Gonzalez, Jack H. Marciano, Richard Smith, Norma K. Hylton, Edward Yang, J. Fernando Bazán, Lee C. Barrett, Rebecca Yeh, Robert S. Hill, Samantha G. Beck, Aoi Otani, Angad Jolly, Tadahiro Mitani, Jennifer E. Posey, Davut Pehlivan, Daniel G. Calame, Hatip Aydın, Osman Yeşilbaş, Kendall C. Parks, Emanuela Argilli, Eleina England, Kiho Im, Ajay Taranath, Hamish S. Scott, Christopher Barnett, Peer Arts, Elliott H. Sherr, James R. Lupski
مصطلحات موضوعية: Regulation and Function of Microtubules in Cell Division, Cell Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Mechanisms of Intracellular Membrane Trafficking, Molecular Mechanisms of Cardiac Development and Regeneration, Molecular Biology, Kinesin Proteins, Biology, Kinesin, Loss function, Neuroscience, Cell biology, Signal transduction, Microtubule, Genetics, FOS Biological sciences, Phenotype, Gene
-
8دورية أكاديمية
المؤلفون: Parvathy Venugopal, Lucia Gagliardi, Cecily Forsyth, Jinghua Feng, Kerry Phillips, Milena Babic, Nicola K. Poplawski, Hugh Young Rienhoff, Andreas W. Schreiber, Christopher N. Hahn, Anna L. Brown, Hamish S. Scott
المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-5 (2020)
مصطلحات موضوعية: Neutropenia, Congenital neutropenia, Leukemia predisposition, Polygenic inheritance, Hearing loss, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-020-0971-zTest; https://doaj.org/toc/1471-2350Test
-
9دورية أكاديمية
المؤلفون: Sunita M. C. De Sousa, Jim Manavis, Jinghua Feng, Paul Wang, Andreas W. Schreiber, Hamish S. Scott, David J. Torpy
المصدر: BMC Endocrine Disorders, Vol 20, Iss 1, Pp 1-6 (2020)
مصطلحات موضوعية: Cyclical Cushing’s, Aryl hydrocarbon receptor, Retinoid X receptor gamma, Whole exome sequencing, Clock genes, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1472-6823Test
-
10دورية أكاديمية
المؤلفون: Claire C. Homan, Sarah L. King-Smith, David M. Lawrence, Peer Arts, Jinghua Feng, James Andrews, Mark Armstrong, Thuong Ha, Julia Dobbins, Michael W. Drazer, Kai Yu, Csaba Bödör, Alan Cantor, Mario Cazzola, Erin Degelman, Courtney D. DiNardo, Nicolas Duployez, Remi Favier, Stefan Fröhling, Jude Fitzgibbon, Jeffery M. Klco, Alwin Krämer, Mineo Kurokawa, Joanne Lee, Luca Malcovati, Neil V. Morgan, Georges Natsoulis, Carolyn Owen, Keyur P. Patel, Claude Preudhomme, Hana Raslova, Hugh Rienhoff, Tim Ripperger, Rachael Schulte, Kiran Tawana, Elvira Velloso, Benedict Yan, Paul Liu, Lucy A. Godley, Andreas W. Schreiber, Christopher N. Hahn, Hamish S. Scott, Anna L. Brown
المصدر: Haematologica, Vol 106, Iss 11 (2021)
مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
العلاقة: https://haematologica.org/article/view/10328Test; https://doaj.org/toc/0390-6078Test; https://doaj.org/toc/1592-8721Test