المؤلفون: Balasubramanian, M., Lee, S., Ochoa, E., Badura-Stronka, M., Donnelly, D., Lederer, D., Lynch, S., Gardham, A., Morton, J., Stewart, H., Docquier, F., Rodger, F., Martin, J., Toribio, A., Maher, E.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/208873/8/53110d3c-f7db-4bbf-a5cb-a480274b1783.pdfTest; Balasubramanian, M., Lee, S., Ochoa, E. et al. (13 more authors) (Submitted: 2023) Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome. [Preprint - Research Square Platform LLC] (Submitted)

الإتاحة: https://doi.org/10.21203/rs.3.rs-2653174/v1Test
https://eprints.whiterose.ac.uk/208873Test/
https://eprints.whiterose.ac.uk/208873/8/53110d3c-f7db-4bbf-a5cb-a480274b1783.pdfTest

المؤلفون: Copeland, H., Low, K.J., Wynn, S., Ahmed, A., Arthur, V., Balasubramanian, M., Bennett, K., Berg, J., Bertoli, M., Bryson, L., Bucknall, C., Campbell, J., Chandler, K., Chauhan, J., Clarkson, A., Coles, R., Conti, H., Costello, P., Coupar, T., Craig, A., Dean, J., Dillon, A., Dixit, A., Drew, K., Eason, J., Forzano, F., Foulds, N., Gardham, A., Ghali, N., Green, A., Hanna, W., Harrison, R., Hegarty, M., Higgs, J., Holder, M., Irving, R., Jain, V., Johnson, K., Jolley, R., Jones, W., Jones, G., Joss, S., Kalinauskiene, R., Kanini, F., Kavanagh, K., Khan, M., Khan, N., Kivuva, E., Lahiri, N., Lakhani, N., Lampe, A., Lynch, S.A., Mansour, S., Marsden, A., Massey, H., McKee, S., Mohammed, S., Naik, S., Nesarajah, M., Newbury-Ecob, R., Osborne, F., Parker, M.J., Patterson, J., Pottinger, C., Prapa, M., Prescott, K., Quinn, S., Radley, J.A., Robart, S., Ross, A., Rosti, G., Sansbury, F., Sarkar, A., Searle, C., Shannon, N., Shears, D., Smithson, S., Stewart, H., Suri, M., Tadros, S., Theobald, R., Thomas, R., Tsoulaki, O., Vasudevan, P., Verdesoto, M., Vittery, E., Whyte, S., Woods, E., Wright, T., Zocche, D., Firth, H.V., Wright, C.F.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/208872/3/2023.10.18.23297202v1.full.pdfTest; Copeland, H., Low, K.J., Wynn, S. et al. (89 more authors) (Submitted: 2023) Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders. [Preprint - medRxiv] (Submitted)

الإتاحة: https://doi.org/10.1101/2023.10.18.23297202Test
https://eprints.whiterose.ac.uk/208872Test/
https://eprints.whiterose.ac.uk/208872/3/2023.10.18.23297202v1.full.pdfTest

المؤلفون: Hjeij, Rim, Leslie, Joseph, Rizk, Hoda, Dworniczak, Bernd, Olbrich, Heike, Raidt, Johanna, Bode, Sebastian Felix Nepomuk, Gardham, Alice, Stals, Karen, Al-Haggar, Mohammad, Osman, Engy, Crosby, Andrew, Eldesoky, Tarek, Baple, Emma, Omran, Heymut

المصدر: Cells ; ISSN:2073-4409 ; Volume:13 ; Issue:12

مصطلحات موضوعية: MNS1, ciliopathy, primary ciliary dyskinesia, situs inversus

العلاقة: https://doi.org/10.3390/cells13121017Test; https://pubmed.ncbi.nlm.nih.gov/38920647Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11202006Test/

الإتاحة: https://doi.org/10.3390/cells13121017Test
https://pubmed.ncbi.nlm.nih.gov/38920647Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11202006Test/

المؤلفون: Goudie, David, Verde, Alejandra Damián, Gardham, Alice, Ramond, Francis, Putoux, Audrey, Sarkar, Ajoy, Clowes, Virginia, Clayton-Smith, Jill, Banka, Siddharth, Cortazar Galarza, Laura, Thuret, Gilles, Ubeda Erviti, Marta, Zurutuza Ibarguren, Ane, Sáez Villaverde, Raquel, Tamayo Durán, Alejandra, Ayuso, Carmen, Bax, Dorine A, Plaisancie, Julie, Corton, Marta, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K

المصدر: Goudie , D , Verde , A D , Gardham , A , Ramond , F , Putoux , A , Sarkar , A , Clowes , V , Clayton-Smith , J , Banka , S , Cortazar Galarza , L , Thuret , G , Ubeda Erviti , M , Zurutuza Ibarguren , A , Sáez Villaverde , R , Tamayo Durán , A , Ayuso , C , Bax , D A , Plaisancie , J , Corton , M , Chassaing , N , Calvas , P & Ragge , N K 2022 , ' Individuals ....

مصطلحات موضوعية: FZD5, Wnt signalling pathway, Coloboma, Genetic testing, Microphthalmia, Patient care, Penetrance

العلاقة: https://research.manchester.ac.uk/en/publications/42a262ad-4683-4db6-8bf3-9289adeb36b1Test

الإتاحة: https://doi.org/10.1080/13816810.2022.2144905Test
https://research.manchester.ac.uk/en/publications/42a262ad-4683-4db6-8bf3-9289adeb36b1Test
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:000922727100011&DestLinkType=FullRecord&DestApp=WOSTest

المؤلفون: Ragoussis, Vassilis, Pagnamenta, Alistair T., Haines, Rebecca L., Giacopuzzi, Edoardo, McClatchey, Martin A., Sampson, Julian R., Suri, Mohnish, Gardham, Alice, Cobben, Jan-Maarten, Osio, Deborah, Fry, Andrew E., Genomics England Research Consortium, Taylor, Jenny C.

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/138663/7/jmedgenet-2020-107528.full.pdfTest; Ragoussis, Vassilis, Pagnamenta, Alistair T., Haines, Rebecca L., Giacopuzzi, Edoardo, McClatchey, Martin A., Sampson, Julian R. https://orca.cardiff.ac.uk/view/cardiffauthors/A0160820.htmlTest orcid:0000-0002-2902-2348 orcid:0000-0002-2902-2348, Suri, Mohnish, Gardham, Alice, Cobben, Jan-Maarten, Osio, Deborah, Fry, Andrew E. https://orca.cardiff.ac.uk/view/cardiffauthors/A126971M.htmlTest orcid:0000-0001-9778-6924 orcid:0000-0001-9778-6924, Genomics England Research Consortium and Taylor, Jenny C. 2022. Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation. Journal of Medical Genetics 59 (4) , pp. 366-369. 10.1136/jmedgenet-2020-107528 https://doi.org/10.1136/jmedgenet-2020-107528Test file https://orca.cardiff.ac.uk/id/eprint/138663/7/jmedgenet-2020-107528.full.pdfTest

الإتاحة: https://doi.org/10.1136/jmedgenet-2020-107528Test
https://orca.cardiff.ac.uk/id/eprint/138663Test/
https://orca.cardiff.ac.uk/id/eprint/138663/7/jmedgenet-2020-107528.full.pdfTest

المؤلفون: Perera, Luke A, Hattersley, Andrew T, Harding, Heather P, Wakeling, Matthew N, Flanagan, Sarah E, Mohsina, Ibrahim, Raza, Jamal, Gardham, Alice, Ron, David, De Franco, Elisa

مصطلحات موضوعية: diabetes mellitus, endoplasmic reticulum chaperone, mutation, nucleotidyltransferases, post-translational, Animals, Cricetinae, Humans, Infant, Endoplasmic Reticulum Chaperone BiP, Protein Processing, Cricetulus, Adenosine Monophosphate

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/344260Test

الإتاحة: https://doi.org/10.17863/CAM.91685Test
https://www.repository.cam.ac.uk/handle/1810/344260Test

المؤلفون: Sörmann, Janina, Schewe, Marcus, Proks, Peter, Jouen-Tachoire, Thibault, Rao, Shanlin, Riel, Elena B., Agre, Katherine E., Begtrup, Amber, Dean, John, Descartes, Maria, Fischer, Jan, Gardham, Alice, Lahner, Carrie, Mark, Paul R., Muppidi, Srikanth, Pichurin, Pavel N., Porrmann, Joseph, Schallner, Jens, Smith, Kirstin, Straub, Volker, Vasudevan, Pradeep, Willaert, Rebecca, Carpenter, Elisabeth P., Rödström, Karin E. J., Hahn, Michael G., Müller, Thomas, Baukrowitz, Thomas, Hurles, Matthew E., Wright, Caroline F., Tucker, Stephen J.

المساهمون: RCUK | Biotechnology and Biological Sciences Research Council, Wellcome Trust, Deutsche Forschungsgemeinschaft

المصدر: Nature Genetics ; volume 54, issue 10, page 1534-1543 ; ISSN 1061-4036 1546-1718

مصطلحات موضوعية: Genetics

الإتاحة: https://doi.org/10.1038/s41588-022-01185-xTest
https://www.nature.com/articles/s41588-022-01185-x.pdfTest
https://www.nature.com/articles/s41588-022-01185-xTest

المؤلفون: Holt, Richard, Goudie, David, Verde, Alejandra Damián, Gardham, Alice, Ramond, Francis, Putoux, Audrey, Sarkar, Ajoy, Clowes, Virginia, Clayton-Smith, Jill, Banka, Siddharth, Cortazar Galarza, Laura, Thuret, Gilles, Ubeda Erviti, Marta, Zurutuza Ibarguren, Ane, Sáez Villaverde, Raquel, Tamayo Durán, Alejandra, Ayuso, Carmen, Bax, Dorine A, Plaisancie, Julie, Corton, Marta, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K

المساهمون: Baillie Gifford, MACS

المصدر: Ophthalmic Genetics ; volume 43, issue 6, page 809-816 ; ISSN 1381-6810 1744-5094

الإتاحة: https://doi.org/10.1080/13816810.2022.2144905Test

المؤلفون: Gardham, Sharon

المساهمون: Bath Spa University

المصدر: Negotiating Climate Change in Crisis ; page 323-334 ; ISBN 9781800642607 9781800642614 9781800642621 9781800642645 9781800642652 9781800642638

الإتاحة: https://doi.org/10.11647/obp.0265.25Test

المؤلفون: Gardham, Steve

المصدر: Musical Traditions: Articles. 2024, Issue 338, p1-21. 21p.

مصطلحات موضوعية: *CARGO ships, *BALLAD (Literary form), *MERCHANT ships, *ENGLISH language, *SAILING ships, *MARITIME piracy, *CRYING