المؤلفون: Knöpfel, Nicole, Zecchin, Davide, Richardson, Hanna, Polubothu, Satyamaanasa, Barberan-Martin, Sara, Cullup, Thomas, Gholam, Karolina, Heales, Simon, Krywawych, Steve, López-Balboa, Pablo, Muwanga-Nanyonjo, Noreen, Ogunbiyi, Olumide, Puvirajasinghe, Clinda, Solman, Lea, Swarbrick, Katherine, Syed, Samira B., Tahir, Zubair, Tisdall, Martin M., Allgrove, Jeremy, Chesover, Alexander D., Aylett, Sarah E., Jacques, Thomas S., Hannan, Fadil M., Löbel, Ulrike, Semple, Robert K., Thakker, Rajesh V., Kinsler, Veronica A.

المصدر: Journal of Investigative Dermatology ; volume 144, issue 4, page 820-832.e9 ; ISSN 0022-202X

مصطلحات موضوعية: Cell Biology, Dermatology, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1016/j.jid.2023.09.008Test
https://api.elsevier.com/content/article/PII:S0022202X23026040?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0022202X23026040?httpAccept=text/plainTest

المؤلفون: Zecchin, Davide, Knöpfel, Nicole, Gluck, Anna K., Stevenson, Mark, Sauvadet, Aimie, Polubothu, Satyamaanasa, Barberan-Martin, Sara, Michailidis, Fanourios, Bryant, Dale, Inoue, Asuka, Lines, Kate E., Hannan, Fadil M., Semple, Robert K., Thakker, Rajesh V., Kinsler, Veronica A.

المصدر: Journal of Investigative Dermatology ; volume 144, issue 4, page 811-819.e4 ; ISSN 0022-202X

مصطلحات موضوعية: Cell Biology, Dermatology, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1016/j.jid.2023.08.028Test
https://api.elsevier.com/content/article/PII:S0022202X23026039?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0022202X23026039?httpAccept=text/plainTest

المؤلفون: Pagnamenta, Alistair T, Camps, Carme, Giacopuzzi, Edoardo, Hashim, Mona, Calpena, Eduardo, Kaisaki, Pamela J, Hashimoto, Akiko, Sanders, Edward, Schwessinger, Ron, Hughes, Jim R, Lunter, Gerton, Dreau, Helene, Ferla, Matteo, Lange, Lukas, Kesim, Yesim, Ragoussis, Vassilis, Vavoulis, Dimitrios V, Allroggen, Holger, Ansorge, Olaf, Babbs, Christian, Banka, Siddharth, Baños-Piñero, Benito, Beeson, David, Ben-Ami, Tal, Bento, Celeste, Blair, Edward, Brasch-Andersen, Charlotte, Bull, Katherine R, Cario, Holger, Cilliers, Deirdre, Conti, Valerio, Davies, E Graham, Dhalla, Fatima, Dacal, Beatriz Diez, Dong, Yin, Dunford, James E, Guerrini, Renzo, Harris, Adrian L, Hartley, Jane, Hollander, Georg, Javaid, Kassim, Kane, Maureen, Kelly, Deirdre, Knight, Samantha J L, Kreins, Alexandra Y, Kvikstad, Erika M, Langman, Craig B, Lester, Tracy, Lines, Kate E, Lord, Simon R, Lu, Xin, Mansour, Sahar, Manzur, Adnan, Maroofian, Reza, Marsden, Brian, Mason, Joanne, McGowan, Simon J, Mei, Davide, Mlcochova, Hana, Murakami, Yoshiko, Okoli, Steven, Ormondroyd, Elizabeth, Ousager, Lilian Bomme, Palace, Jacqueline, Patel, Smita Y, Pentony, Melissa M, Pugh, Chris, Rad, Aboulfazl, Ramesh, Archana, Riva, Simone G, Roberts, Irene, Roy, Noémi, Salminen, Outi, Schilling, Kyleen D, Scott, Caroline, Sen, Arjune, Smith, Conrad, Stevenson, Mark, Thakker, Rajesh V, Twigg, Stephen R F, Uhlig, Holm H, van Wijk, Richard, Vona, Barbara, Wall, Steven, Watkins, Hugh, Zak, Jaroslav, Schuh, Anna H, Kini, Usha, Wilkie, Andrew O M, Popitsch, Niko, Taylor, Jenny C

المصدر: Pagnamenta , A T , Camps , C , Giacopuzzi , E , Hashim , M , Calpena , E , Kaisaki , P J , Hashimoto , A , Sanders , E , Schwessinger , R , Hughes , J R , Lunter , G , Dreau , H , Ferla , M , Lange , L , Kesim , Y , Ragoussis , V , Vavoulis , D V , Allroggen , H , Ansorge , O , Babbs , C , Banka , S , Baños-Piñero , B , Beeson , D , Ben-Ami , T ....

مصطلحات موضوعية: Bioinformatics pipeline development, Clinical impact, Diagnostic yield, Genome sequencing, Non-coding, Pipeline optimisation, Rare diseases, Splice site variant, Structural variant

العلاقة: https://research.manchester.ac.uk/en/publications/2a922c99-e335-4f44-9496-91e126ce9864Test

الإتاحة: https://doi.org/10.1186/s13073-023-01240-0Test
https://research.manchester.ac.uk/en/publications/2a922c99-e335-4f44-9496-91e126ce9864Test

المؤلفون: Kooblall, Kreepa G., Stevenson, Mark, Stewart, Michelle, Harris, Lachlan, Zalucki, Oressia, Dewhurst, Hannah, Butterfield, Natalie, Leng, Houfu, Hough, Tertius A., Ma, Da, Siow, Bernard, Potter, Paul, Cox, Roger D., Brown, Stephen D. M., Horwood, Nicole, Wright, Benjamin, Lockstone, Helen, Buck, David, Vincent, Tonia L., Hannan, Fadil M., Bassett, J. H. Duncan, Williams, Graham R., Lines, Kate E., Piper, Michael, Wells, Sara, Teboul, Lydia, Hennekam, Raoul C., Thakker, Rajesh V.

وصف الملف: application/pdf

العلاقة: https://ueaeprints.uea.ac.uk/id/eprint/92291/1/Kooblall_etal_2023_JBMRPlus.pdfTest; Kooblall, Kreepa G., Stevenson, Mark, Stewart, Michelle, Harris, Lachlan, Zalucki, Oressia, Dewhurst, Hannah, Butterfield, Natalie, Leng, Houfu, Hough, Tertius A., Ma, Da, Siow, Bernard, Potter, Paul, Cox, Roger D., Brown, Stephen D. M., Horwood, Nicole, Wright, Benjamin, Lockstone, Helen, Buck, David, Vincent, Tonia L., Hannan, Fadil M., Bassett, J. H. Duncan, Williams, Graham R., Lines, Kate E., Piper, Michael, Wells, Sara, Teboul, Lydia, Hennekam, Raoul C. and Thakker, Rajesh V. (2023) A mouse model with a frameshift mutation in the nuclear factor I/X (NFIX) gene has phenotypic features of Marshall-Smith syndrome. JBMR Plus, 7 (6). ISSN 2473-4039

الإتاحة: https://doi.org/10.1002/jbm4.10739Test
https://ueaeprints.uea.ac.uk/id/eprint/92291Test/
https://ueaeprints.uea.ac.uk/id/eprint/92291/1/Kooblall_etal_2023_JBMRPlus.pdfTest

المؤلفون: Gorvin, Caroline M., Newey, Paul J., Thakker, Rajesh V.

المصدر: Gorvin , C M , Newey , P J & Thakker , R V 2023 , ' Identification of prolactin receptor variants with diverse effects on receptor signalling ' , Journal of Molecular Endocrinology , vol. 70 , no. 3 , e220164 . https://doi.org/10.1530/JME-22-0164Test

مصطلحات موضوعية: JAK-STAT5, hyperprolactinaemia, prolactinoma, proliferation, /dk/atira/pure/subjectarea/asjc/1300/1310, name=Endocrinology, /dk/atira/pure/subjectarea/asjc/1300/1312, name=Molecular Biology

وصف الملف: application/pdf

العلاقة: https://discovery.dundee.ac.uk/en/publications/214f54b5-1600-4cf0-8643-f454b4af0d23Test

الإتاحة: https://doi.org/10.1530/JME-22-0164Test
https://discovery.dundee.ac.uk/en/publications/214f54b5-1600-4cf0-8643-f454b4af0d23Test
https://discovery.dundee.ac.uk/ws/files/94992716/1479_6813_JME_22_0164.pdfTest
http://www.scopus.com/inward/record.url?scp=85147048289&partnerID=8YFLogxKTest

المؤلفون: Knöpfel, Nicole, Zecchin, Davide, Richardson, Hanna, Polubothu, Satyamaanasa, Barberan-Martin, Sara, Cullup, Thomas, Gholam, Karolina, Heales, Simon, Krywawych, Steve, López-Balboa, Pablo, Muwanga-Nanyonjo, Noreen, Ogunbiyi, Olumide, Puvirajasinghe, Clinda, Solman, Lea, Swarbrick, Katherine, Syed, Samira B, Tahir, Zubair, Tisdall, Martin M, Allgrove, Jeremy, Chesover, Alexander D, Aylett, Sarah E, Jacques, Thomas S, Hannan, Fadil M, Löbel, Ulrike, Semple, Robert K, Thakker, Rajesh V, Kinsler, Veronica A

المصدر: Journal of Investigative Dermatology (2023) (In press).

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10183469/1/1-s2.0-S0022202X23026040-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10183469Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10183469/1/1-s2.0-S0022202X23026040-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10183469Test/

المؤلفون: Zecchin, Davide, Knöpfel, Nicole, Gluck, Anna K, Stevenson, Mark, Sauvadet, Aimie, Polubothu, Satyamaanasa, Barberan-Martin, Sara, Michailidis, Fanourios, Bryant, Dale, Inoue, Asuka, Lines, Kate E, Hannan, Fadil M, Semple, Robert K, Thakker, Rajesh V, Kinsler, Veronica A

المصدر: Journal of Investigative Dermatology (2023) (In press).

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10181009/1/1-s2.0-S0022202X23026039-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10181009Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10181009/1/1-s2.0-S0022202X23026039-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10181009Test/

المؤلفون: English, Katherine A., Lines, Kate E., Thakker, Rajesh V.

المساهمون: Cancer Research UK, NIHR Oxford Biomedical Research Centre

المصدر: Hormones ; volume 23, issue 1, page 3-14 ; ISSN 1109-3099 2520-8721

مصطلحات موضوعية: General Medicine, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1007/s42000-023-00508-9Test

المؤلفون: Lovegrove, Catherine E., Bešević, Jelena, Wiberg, Akira, Lacey, Ben, Littlejohns, Thomas J., Allen, Naomi E., Goldsworthy, Michelle, Kim, Jihye, Hannan, Fadil M., Curhan, Gary C., Turney, Ben W., McCarthy, Mark I., Mahajan, Anubha, Thakker, Rajesh V., Holmes, Michael V., Furniss, Dominic, Howles, Sarah A.

المساهمون: Kidney Research UK, NIHR Oxford Biomedical Research Center, Wellcome Trust, British Heart Foundation, National Institutes of Health

المصدر: Journal of the American Society of Nephrology ; volume 34, issue 12, page 1991-2011 ; ISSN 1046-6673 1533-3450

الإتاحة: https://doi.org/10.1681/asn.0000000000000238Test

المؤلفون: English, Katherine A, Thakker, Rajesh V, Lines, Kate E

المصدر: Endocrine Oncology ; volume 3, issue 1 ; ISSN 2634-4793

مصطلحات موضوعية: General Engineering

الإتاحة: https://doi.org/10.1530/eo-23-0003Test
https://eo.bioscientifica.com/view/journals/eo/3/1/EO-23-0003.xmlTest