المؤلفون: Blakes, Alexander J.M., Wai, Htoo, Davies, Ian, Moledina, Hassan E, Ruiz, April, Thomas, Tessy, Bunyan, David, Thomas, N Simon, Burren, Christine P, Greenhalgh, Lynn, Lees, Melissa, Pichini, Amanda, Smithson, Sarah F., Tavares, Ana Lisa Taylor, O'Donovan, Peter, Douglas, Andrew, Whiffin, Nicola, Baralle, Diana, Lord, Jenny

وصف الملف: text

العلاقة: https://eprints.soton.ac.uk/468545/1/Blakes_2022.docxTest; https://eprints.soton.ac.uk/468545/2/s13073_022_01087_x.pdfTest; Whiffin, Nicola, Baralle, Diana and Lord, Jenny , Genomics England Research Consortium, Splicing and Disease Working Group (2022) A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project. Genome Medicine, 14 (1), 79, [79]. (doi:10.1186/s13073-022-01087-x ).

الإتاحة: https://doi.org/10.1186/s13073-022-01087-xTest
https://eprints.soton.ac.uk/468545Test/
https://eprints.soton.ac.uk/468545/1/Blakes_2022.docxTest
https://eprints.soton.ac.uk/468545/2/s13073_022_01087_x.pdfTest

المؤلفون: Blakes, Alexander JM, Wai, Htoo A, Davies, Ian, Moledina, Hassan E, Ruiz, April, Thomas, Tessy, Bunyan, David, Thomas, N Simon, Burren, Christine P, Greenhalgh, Lynn, Lees, Melissa, Pichini, Amanda, Smithson, Sarah F, Taylor Tavares, Ana Lisa, O'Donovan, Peter, Douglas, Andrew GL, Genomics England Research Consortium, Splicing and Disease Working Group, Whiffin, Nicola, Baralle, Diana, Lord, Jenny

المصدر: essn: 1756-994X ; nlmid: 101475844

مصطلحات موضوعية: Exons, Humans, Introns, RNA, RNA Splicing, Rare Diseases

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/340601Test

الإتاحة: https://doi.org/10.17863/CAM.88039Test
https://www.repository.cam.ac.uk/handle/1810/340601Test

المؤلفون: Blakes, Alexander J. M., Wai, Htoo A., Davies, Ian, Moledina, Hassan E., Ruiz, April, Thomas, Tessy, Bunyan, David, Thomas, N. Simon, Burren, Christine P., Greenhalgh, Lynn, Lees, Melissa, Pichini, Amanda, Smithson, Sarah F., Taylor Tavares, Ana Lisa, O’Donovan, Peter, Douglas, Andrew G. L., Whiffin, Nicola, Baralle, Diana, Lord, Jenny

المساهمون: National Institute for Health Research, Wessex Medical Research, Wellcome Trust, Rosetrees Trust, Health Education England

المصدر: Genome Medicine ; volume 14, issue 1 ; ISSN 1756-994X

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s13073-022-01087-xTest

المؤلفون: Pagnamenta, Alistair T, Yu, Jing, Evans, Julie, Twiss, Philip, Offiah, Amaka C, Wafik, Mohamed, Mehta, Sarju G, Javaid, Mohammed K, Smithson, Sarah F, Taylor, Jenny C

المساهمون: Medical Research Council, Wellcome Trust, Cancer Research UK, NIHR Biomedical Research Centre, Oxford

المصدر: Journal of Medical Genetics ; volume 60, issue 5, page 505-510 ; ISSN 0022-2593 1468-6244

الإتاحة: https://doi.org/10.1136/jmg-2022-108753Test

المؤلفون: Gripp, Karen, Smithson, Sarah F., Scurr, Ingrid J., Baptista, Julia, Majumdar, Anirban, Pierre, Germaine, Williams, Maggie, Henderson, Lindsay B., Wentzensen, Ingrid M., McLaughlin, Heather, Leeuwen, Lisette, Simon, Marleen E. H., van Binsbergen, Ellen, Dinulos, Mary Beth P., Kaplan, Julie D., McRae, Anne, Superti-Furga, Andrea, Good, Jean-Marc, Kerstin

المصدر: http://lobid.org/resources/99370671030206441Test#!, 29(9):1384-1395.

مصطلحات موضوعية: Abnormalities, Multiple/genetics [MeSH], Gain of Function Mutation [MeSH], Multiple/pathology [MeSH], Hallux/pathology [MeSH], Genetics research, Intellectual Disability/pathology [MeSH], Male [MeSH], Thumb/abnormalities [MeSH], Nails, Malformed/genetics [MeSH], Phenotype [MeSH], Channelopathies/pathology [MeSH], Child [MeSH], Craniofacial Abnormalities/pathology [MeSH], Adolescent [MeSH], Female [MeSH], Fibromatosis, Gingival/pathology [MeSH], Potassium Channels/genetics [MeSH], Adult [MeSH], Humans [MeSH], Intellectual Disability/genetics [MeSH], Thumb/pathology [MeSH], Channelopathies/genetics [MeSH], Paediatric neurological disorders, Malformed/pathology [MeSH], Hand Deformities, Congenital/pathology [MeSH], Hallux/abnormalities [MeSH]

العلاقة: https://repository.publisso.de/resource/frl:6442792Test; https://doi.org/10.1038/s41431-021-00818-9Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440610Test/

الإتاحة: https://doi.org/10.1038/s41431-021-00818-9Test
https://repository.publisso.de/resource/frl:6442792Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440610Test/

المؤلفون: Gripp, Karen W, Smithson, Sarah F, Scurr, Ingrid J, Baptista, Julia, Majumdar, Anirban, Pierre, Germaine, Williams, Maggie, Henderson, Lindsay B, Wentzensen, Ingrid M, McLaughlin, Heather, Leeuwen, Lisette, Simon, Marleen E H, van Binsbergen, Ellen, Dinulos, Mary Beth P, Kaplan, Julie D, McRae, Anne, Superti-Furga, Andrea, Good, Jean-Marc, Kutsche, Kerstin

المساهمون: Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health

مصطلحات موضوعية: Genetics(clinical), Genetics, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/443300Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/443300Test

المؤلفون: Taylor-Miller, Tashunka, Sivaprakasam, Ponni, Smithson, Sarah F, Steward, Colin G, Burren, Christine P

المصدر: Taylor-Miller , T , Sivaprakasam , P , Smithson , S F , Steward , C G & Burren , C P 2021 , ' Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis ' , Bone reports , vol. 14 , 100738 , pp. 100738 . https://doi.org/10.1016/j.bonr.2020.100738Test

مصطلحات موضوعية: Osteopetrosis, Denosumab, Hypercalcaemia

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1016/j.bonr.2020.100738Test
https://hdl.handle.net/1983/506a133a-175e-47d8-b697-3a5378093659Test
https://research-information.bris.ac.uk/en/publications/506a133a-175e-47d8-b697-3a5378093659Test
https://research-information.bris.ac.uk/ws/files/261897881/ePub_Dec_2020.pdfTest

المؤلفون: Schon, Katherine R, Horvath, Rita, Wei, Wei, Calabrese, Claudia, Tucci, Arianna, Ibañez, Kristina, Ratnaike, Thiloka, Pitceathly, Robert D S, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G, Clement, Emma, Ashton, Emma, Sayer, John A, Brennan, Paul, Josifova, Dragana, Izatt, Louise, Fratter, Carl, Nesbitt, Victoria, Barrett, Timothy, McMullen, Dominic J, Smith, Audrey, Deshpande, Charulata, Smithson, Sarah F, Festenstein, Richard, Canham, Natalie, Caulfield, Mark, Houlden, Henry, Rahman(, Shamima, Chinnery, Patrick F

المساهمون: University of Cambridge, Alzheimer's Society, Leverhulme Trust, National Institute for Health Research, Department of Health, Evelyn Trust, Wellcome Trust, Medical Research Council

المصدر: BMJ ; page e066288 ; ISSN 1756-1833

الإتاحة: https://doi.org/10.1136/bmj-2021-066288Test

المؤلفون: Drissi, Ichrak, Fletcher, Emily, Shaheen, Ranad, Nahorski, Michael, Alhashem, Amal M, Lisgo, Steve, Fernández-Jaén, Alberto, Schon, Katherine, Tlili-Graiess, Kalthoum, Smithson, Sarah F, Lindsay, Susan, J Sharpe, Hayley, Alkuraya, Fowzan S, Woods, Geoff

المساهمون: NIHR Cambridge Biomedical Research centre

المصدر: Journal of Medical Genetics ; volume 59, issue 4, page 358-365 ; ISSN 0022-2593 1468-6244

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1136/jmedgenet-2020-107237Test

المؤلفون: Mason, Anna E, Grier, David, Smithson, Sarah F, Burren, Christine P, Gradhand, Elise

المصدر: Mason , A E , Grier , D , Smithson , S F , Burren , C P & Gradhand , E 2020 , ' Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery : a case report ' , BMC Medical Genetics , vol. 21 , 64 (2020) . https://doi.org/10.1186/s12881-020-01007-zTest

مصطلحات موضوعية: TRPV6 (transient receptor potential cation channel subfamily V member 6), skeletal dysplasia, placental calcium transfer, post-mortem

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1186/s12881-020-01007-zTest
https://hdl.handle.net/1983/cf0025dc-6c4f-4f92-b2a3-3ec871ce8aabTest
https://research-information.bris.ac.uk/en/publications/cf0025dc-6c4f-4f92-b2a3-3ec871ce8aabTest
https://research-information.bris.ac.uk/ws/files/231774277/document_42_.pdfTest
https://research-information.bris.ac.uk/ws/files/238618563/Mason_et_al_2020_BMC_Medical_Genetics.pdfTest