المؤلفون: Durkin, A., Albaba, S., Fry, A.E., Morton, J.E., Douglas, A., Beleza, A., Williams, D., Volker‐Touw, C.M.L., Lynch, S.A., Canham, N., Clowes, V., Straub, V., Lachlan, K., Gibbon, F., El Gamal, M., Varghese, V., Parker, M.J., Newbury‐Ecob, R., Turnpenny, P.D., Gardham, A., Ghali, N., Balasubramanian, M.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/160362/1/ajmg.a.61599.pdfTest; Durkin, A., Albaba, S., Fry, A.E. et al. (19 more authors) (2020) Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review. American Journal of Medical Genetics Part A, 182 (7). pp. 1637-1654. ISSN 1552-4825

الإتاحة: https://eprints.whiterose.ac.uk/160362Test/
https://eprints.whiterose.ac.uk/160362/1/ajmg.a.61599.pdfTest

المؤلفون: Meena Balasubramanian, Sunwoo Lee, Eguzkine Ochoa, Magdalena Badura-Stronka, Deirdre Donnelly, Damien Lederer, Sally Lynch, Alice Gardham, Jenny Morton, Helen Stewart, France Docquier, Fay Rodger, Jose Martin, Ana Toribio, Eamonn Maher

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cbc420a00983464ec6688ae27eca5debTest
https://doi.org/10.21203/rs.3.rs-2653174/v1Test

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

المساهمون: Perera, Luke A [0000-0002-0032-1176], Hattersley, Andrew T [0000-0001-5620-473X], Harding, Heather P [0000-0002-7359-7974], Ron, David [0000-0002-3014-5636], De Franco, Elisa [0000-0002-1437-7891], Apollo - University of Cambridge Repository

مصطلحات موضوعية: nucleotidyltransferases, endoplasmic reticulum chaperone, EMBO16, EMBO27, post‐translational, diabetes mellitus, Molecular Medicine, Articles, mutation, EMBO21, Article

وصف الملف: text/xml; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d816924c4de0973bffb20d6391665e67Test
https://www.repository.cam.ac.uk/handle/1810/345813Test

المؤلفون: Gardham, Louise Marie

مصطلحات موضوعية: 530.412

الوصول الحر: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.395322Test

المؤلفون: Bernkopf, M., Abdullah, U. B., Bush, S. J., Wood, K. A., Ghaffari, S., Giannoulatou, E., Koelling, N., Maher, G. J., Thibaut, L. M., Williams, J., Blair, E. M., Kelly, F. B., Bloss, A., Burkitt-Wright, E., Canham, N., Deng, A. T., Dixit, A., Eason, J., Elmslie, F., Gardham, A., Hay, E., Holder, M., Homfray, T., Hurst, J. A., Johnson, D., Jones, W. D., Kini, U., Kivuva, E., Kumar, A., Lees, M. M., Leitch, H. G., Morton, J. E. V., Németh, A. H., Ramachandrappa, S., Saunders, K., Shears, D. J., Side, L., Splitt, M., Stewart, A., Stewart, H., Suri, M., Clouston, P., Davies, R. W., Wilkie, A. O. M., Goriely, A.

مصطلحات موضوعية: Male, Pregnancy, Female, Humans, Child, Mutation, Parturition, Risk Assessment, Fathers, Germ Cells, Mosaicism, Pedigree, Germ-Line Mutation

العلاقة: https://doi.org/10.1038/s41467-023-36606-wTest; Nat Commun. 2023 Feb 15;14(1):853. doi:10.1038/s41467-023-36606-w.; Nature communications; PMC9932158; https://hdl.handle.net/11287/622872Test

الإتاحة: https://doi.org/10.1038/s41467-023-36606-wTest
https://hdl.handle.net/11287/622872Test

المؤلفون: Hull, Mariam, Saida, Ken, Maroofian, Reza, Sengoku, Toru, Mitani, Tadahiro, Pagnamenta, Alistair T., Marafi, Dana, Zaki, Maha S., O'Brien, Thomas J., Karimiani, Ehsan Ghayoor, Kaiyrzhanov, Rauan, Takizawa, Marina, Ohori, Sachiko, Leong, Huey Yin, Akay, Gulsen, Galehdari, Hamid, Zamani, Mina, Romy, Ratna, Carroll, Christopher J., Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Malek, Hadis, Ahangari, Najmeh, Tomoum, Hoda, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Murphy, David, Dominik, Natalia, Elbendary, Hasnaa M., Rafat, Karima, Yilmaz, Sanem, Kanmaz, Seda, Serin, Mine, Krishnakumar, Deepa, Gardham, Alice, Maw, Anna, Rao, Tekki Sreenivasa, Alsubhi, Sarah, Srour, Myriam, Buhas, Daniela, Jewett, Tamison, Goldberg, Rachel E., Shamseldin, Hanan, Frengen, Eirik, Misceo, Doriana, Strømme, Petter, Magliocco Ceroni, José Ricardo, Kim, Chong Ae, Yesil, Gozde, Sengenc, Esma, Guler, Serhat, Parnes, Mered, Aktas, Dilek, Anlar, Banu, Bayram, Yavuz, Pehlivan, Davut, Posey, Jennifer E., Alavi, Shahryar, Madani Manshadi, Seyed Ali, Alzaidan, Hamad, Al-Owain, Mohammad, Alabdi, Lama, Abdulwahab, Ferdous, Sekiguchi, Futoshi, Hamanaka, Kohei, Fujita, Atsushi, Uchiyama, Yuri, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Elshafie, Reem M., Salayev, Kamran, Guliyeva, Ulviyya, Alkuraya, Fowzan S., Gleeson, Joseph G., Monaghan, Kristin G., Langley, Katherine G., Yang, Hui, Motavaf, Mahsa, Safari, Saeid, Alipour, Mozhgan, Ogata, Kazuhiro, Brown, André E.X., Lupski, James R., Houlden, Henry, Matsumoto, Naomichi

العلاقة: 74096a43-3f6a-4ca6-a8c8-597aeb8c7fca; https://avesis.hacettepe.edu.tr/publication/details/74096a43-3f6a-4ca6-a8c8-597aeb8c7fca/oaiTest

الإتاحة: https://doi.org/10.1016/j.gim.2022.09.010Test
https://avesis.hacettepe.edu.tr/publication/details/74096a43-3f6a-4ca6-a8c8-597aeb8c7fca/oaiTest

المؤلفون: van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, de Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, H. lya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Calvo, Amparo Sanchis, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill, Santen, Gijs W. E.

المصدر: van der Sluijs , P J , Jansen , S , Vergano , S A , Adachi-Fukuda , M , Alanay , Y , AlKindy , A , Baban , A , Bayat , A , Beck-Wödl , S , Berry , K , Bijlsma , E K , Bok , L A , Brouwer , A F J , van der Burgt , I , Campeau , P M , Canham , N , Chrzanowska , K , Chu , Y W Y , Chung , B H Y , Dahan , K , de Rademaeker , M ....

العلاقة: https://research.vumc.nl/en/publications/3464a7d7-8407-4e20-9531-0a0ee220fbbdTest

الإتاحة: https://doi.org/10.1038/s41436-018-0368-yTest
https://doi.org/10.1038/s41436-018-0330-zTest
https://research.vumc.nl/en/publications/3464a7d7-8407-4e20-9531-0a0ee220fbbdTest
http://www.scopus.com/inward/record.url?scp=85060910177&partnerID=8YFLogxKTest

المؤلفون: van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Woedl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hulya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, Lopez-Gonzalez, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill, Santen, Gijs W. E.

المصدر: van der Sluijs , P J , Jansen , S , Vergano , S A , Adachi-Fukuda , M , Alanay , Y , AlKindy , A , Baban , A , Bayat , A , Beck-Woedl , S , Berry , K , Bijlsma , E K , Bok , L A , Brouwer , A F J , van der Burgt , I , Campeau , P M , Canham , N , Chrzanowska , K , Chu , Y W Y , Chung , B H Y , Dahan , K , De Rademaeker , M ....

مصطلحات موضوعية: ARID1B, Coffin-Siris syndrome, intellectual disability, bias, CHROMATIN-REMODELING COMPLEX, MUTATIONS, PHENOTYPE

الإتاحة: https://doi.org/10.1038/s41436-018-0330-zTest
https://cris.maastrichtuniversity.nl/en/publications/980f5080-cc7d-4a61-adef-3f4f8b266bafTest

المؤلفون: Veenstra-Knol, Hermine E., Brouwer, Alwin F. J., van der Burgt, Ineke, Kato, Mitsuhiro, Kant, Sarina G., Horn, Denise, den Hollander, Nicolette S., Herkert, Johanna C., Kayserili, Hulya, Kersseboom, Rogier, Heitink, Karin R., Krajewska-Walasek, Malgorzata, Lammers, Kylin, van Haeringen, Arie, Grasshoff, Ute, Canham, Natalie, Gardham, Alice, Hunt, David, Lees, Melissa, Mehta, Sarju, Metcalfe, Kay, Kilic, Esra, ÜTİNE, GÜLEN EDA, Laulund, Lone W., Lederer, Damien, Lopez-Gonzalez, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Gerkes, Erica H., Gener, Blanca, Fagerberg, Christina, Elias, Ellen R., Elcioglu, Nursel, Earl, Rachel, Dudding-Byth, Tracy, Destree, Anne, De Rademaeker, Marjan, Dahan, Karin, Chung, Brain H. Y., Chu, Yoyo W. Y., Chrzanowska, Krystyna, Campeau, Philippe M., Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Milunsky, Jeff, Mizuno, Seiji, Santen, Gijs W. E., Clayton-Smith, Jill, de Vries, Bert B. A., Pfundt, Rolph, Eichler, Evan, Wieczorek, Dagmar, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Uctepe, Eyyup, Tanabe, Saori, Stumpel, Constance T. R. M., Stegmann, Alexander P. A., Steenbeek, Duco, Splitt, Miranda, Sonmez, Fatma Mujgan, Solaeche, Lucia, Soares, Gabriela, Simsek-Kiper, Pelin O., Sanchis Calvo, Amparo, Sallevelt, Suzanne C. E. H., Roifman, Maian, Kosho, Tomoki, Wollnik, Bernd, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Wilson, Louise C., Wilson, Golder N., Wheeler, Patricia, ALANAY, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Woedl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Vulto-van Silfhout, Anneke T., Vincent-Delorme, Catherine, Vilain, Catheline, Sagiroglu, Mahmut S., Venkateswaran, Sunita, Bok, Levinus A.

العلاقة: 7a33f7d4-50bd-4265-9292-3c45fc9f8a7b; https://avesis.hacettepe.edu.tr/publication/details/7a33f7d4-50bd-4265-9292-3c45fc9f8a7b/oaiTest

الإتاحة: https://doi.org/10.1038/s41436-018-0330-zTest
https://avesis.hacettepe.edu.tr/publication/details/7a33f7d4-50bd-4265-9292-3c45fc9f8a7b/oaiTest

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

مصطلحات موضوعية: Genetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3de95186b04ef58aa01a12b0a5e88aa3Test
https://ora.ox.ac.uk/objects/uuid:9e4145cc-f7d2-4427-a681-824a5df36a17Test