المؤلفون: Charlie Rowlands, Huw B. Thomas, Jenny Lord, Htoo A. Wai, Gavin Arno, Glenda Beaman, Panagiotis Sergouniotis, Beatriz Gomes-Silva, Christopher Campbell, Nicole Gossan, Claire Hardcastle, Kevin Webb, Christopher O’Callaghan, Robert A. Hirst, Simon Ramsden, Elizabeth Jones, Jill Clayton-Smith, Andrew R. Webster, Genomics England Research Consortium, Andrew G. L. Douglas, Raymond T. O’Keefe, William G. Newman, Diana Baralle, Graeme C. M. Black, Jamie M. Ellingford

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2045-2322Test

الوصول الحر: https://doaj.org/article/cff014b62747418fa2af4029a4e249c3Test

المؤلفون: Amy Gerrish, Benjamin Bowns, Chipo Mashayamombe-Wolfgarten, Elizabeth Young, Samantha Court, Joshua Bott, Maureen McCalla, Simon Ramsden, Michael Parks, David Goudie, Sue Carless, Samuel Clokie, Trevor Cole, Stephanie Allen

المصدر: Journal of Clinical Medicine, Vol 9, Iss 11, p 3517 (2020)

مصطلحات موضوعية: retinoblastoma, prenatal diagnosis, non-invasive, cell-free DNA, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/9/11/3517Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/2891b0d63d1a4d40b326f0e819a75901Test

المؤلفون: Alison Taylor-Beadling, Anneke Seller, Simon Ramsden

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0ca3c695733bd3da5f75acbb395614e4Test
https://doi.org/10.1016/b978-0-323-98383-9.00004-7Test

المؤلفون: Michelle E. Abadingo, Marta Ascurra, Michelle Bishop, Kathleen Calzone, Eva Maria C. Cutiongco-de la Paz, Vajira H.W. Dissanayake, Ghada El-Kamah, Karen Fieggen, Clara L. Gaff, Desalyn L. Johnson, Bruce R. Korf, Dhavendra Kumar, Beatriz de la Fuente, Elly Lynch, Ebner Bon G. Maceda, Saqib Mahmood, Melissa Martyn, A. Middleton, Ximena Montenegro-Garreaud, Angelica Moresco, Helen Mountain, Amy Nisselle, Nicholas Pachter, Carmencita D. Padilla, Ratna Dua Puri, Victor Raggio, Simon Ramsden, J. Roberts, Augusto Rojas-Martinez, Anneke Seller, Alison Taylor-Beadling, Nilam Thakur, Emma Tonkin, Rosa Pardo Vargas

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c040306723a03b81c7d83c153c01087eTest
https://doi.org/10.1016/b978-0-323-98383-9.09991-4Test

المؤلفون: Shalaw R. Sallah, Panagiotis I. Sergouniotis, Claire Hardcastle, Simon Ramsden, Andrew J. Lotery, Nick Lench, Simon C. Lovell, Graeme C.M. Black

المصدر: The Journal of molecular diagnostics : JMD. 24(12)

مصطلحات موضوعية: Virulence, Calcium Channels, L-Type, Night Blindness, Mutation, Molecular Medicine, Humans, Eye Diseases, Hereditary, Pathology and Forensic Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::579657f0506833b9b9858aea35c92973Test
https://pubmed.ncbi.nlm.nih.gov/36191840Test

المؤلفون: Colin Thorbinson, Anthony Penn, Pantelis Nicola, Claire Hardcastle, Sarah Waller, Simon Ramsden, Tim H. H. Coorens, Vivian Tang, Edmund Cheesman, Sofia Douzgou, Stefan Meyer

المصدر: Thorbinson, C, Penn, A, Nicola, P, Hardcastle, C L, Waller, S, Ramsden, S, Coorens, T H H, Tang, V, Cheesman, E, Douzgou, S & Meyer, S 2022, ' Embryonal sarcoma of the liver in a girl with Cockayne Syndrome ', Clinical Genetics .

مصطلحات موضوعية: Manchester Cancer Research Centre, ResearchInstitutes_Networks_Beacons/mcrc, Liver Neoplasms, Genetics, Humans, Female, Sarcoma, Cockayne Syndrome, Genetics (clinical)

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c4852b7f0b85023cd066743e96a43aaTest
https://doi.org/10.1111/cge.14094Test

المؤلفون: Claudio Orl, Paolo Verderio, Ronald Maatman, Jan Danneberg, Simon Ramsden, Michael Neumaier, Domenica Taruscio, Vincenzo Falbo, Robert Jansen, Claudia Casini-raggi, Francesca Malentacchi, Ettore Marubini, Sara Pizzamiglio, Kris Vernelen, Jean-claude Libeer, Vladimir Palicka, Mario Pazzagli, Milan Italy

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.clinchem.org/content/53/7/1349.full.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.327.5069Test; http://www.clinchem.org/content/53/7/1349.full.pdfTest

الإتاحة: http://www.clinchem.org/content/53/7/1349.full.pdfTest

المؤلفون: Parviz Ahmad-nejad, Ra Dorn-beineke, Ulrike Pfeiffer, Joachim Brade, Wolf-jochen Geilenkeuser, Simon Ramsden, Mario Pazzagli, Michael Neumaier, Mannheim Germany

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.clinchem.org/content/52/4/716.full.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.327.2293Test; http://www.clinchem.org/content/52/4/716.full.pdfTest

الإتاحة: http://www.clinchem.org/content/52/4/716.full.pdfTest

المؤلفون: Parviz Ahmad-nejad, Ra Dorn-beineke, Ulrike Pfeiffer, Joachim Brade, Wolf-jochen Geilenkeuser, Simon Ramsden, Mario Pazzagli, Michael Neumaier

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.clinchem.org/content/early/2006/01/26/clinchem.2005.061572.full.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.325.6090Test; http://www.clinchem.org/content/early/2006/01/26/clinchem.2005.061572.full.pdfTest

الإتاحة: http://www.clinchem.org/content/early/2006/01/26/clinchem.2005.061572.full.pdfTest

المؤلفون: Mohammed E. El-Asrag, Panagiotis I. Sergouniotis, Martin McKibbin, Vincent Plagnol, Eamonn Sheridan, Naushin Waseem, Zakia Abdelhamed, Declan McKeefry, Kristof Van Schil, James A. Poulter, Colin A. Johnson, Ian M. Carr, Bart P. Leroy, Elfride De Baere, Chris F. Inglehearn, Andrew R. Webster, Carmel Toomes, Manir Ali, Graeme Black, Georgina Hall, Stuart Ingram, Rachel Gillespie, Simon Ramsden, Forbes Manson, Alison Hardcastle, Michel Michaelides, Michael Cheetham, Gavin Arno, Niclas Thomas, Shomi Bhattacharya, Tony Moore, Andrea Nemeth, Susan Downes, Stefano Lise, Emma Lord

المصدر: The American Journal of Human Genetics. 96:948-954

مصطلحات موضوعية: Adult, Molecular Sequence Data, Biology, Compound heterozygosity, Frameshift mutation, Macular Degeneration, chemistry.chemical_compound, symbols.namesake, Report, Retinal Dystrophies, Genetics, Humans, Exome, Pakistan, Genetics (clinical), Exome sequencing, Sanger sequencing, Base Sequence, Homozygote, Membrane Proteins, Retinal, Sequence Analysis, DNA, Disease gene identification, Immunohistochemistry, United Kingdom, Pedigree, chemistry, Mutation, symbols

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbf566d29680388076e2ddd86274ee6bTest
https://doi.org/10.1016/j.ajhg.2015.04.006Test