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

المصدر: Cells, Vol 13, Iss 12, p 1017 (2024)

مصطلحات موضوعية: ciliopathy, situs inversus, primary ciliary dyskinesia, MNS1, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4409/13/12/1017Test; https://doaj.org/toc/2073-4409Test

الوصول الحر: https://doaj.org/article/fc5c579b6c0a47f193de2479c29dfa89Test

المؤلفون: Pagnamenta, Alistair T., Yu, Jing, Walker, Susan, Noble, Alexandra J., Lord, Jenny, Dutta, Prasun, Hashim, Mona, Camps, Carme, Green, Hannah, Devaiah, Smrithi, Nashef, Lina, Parr, Jason, Fratter, Carl, Hussein, Rana Ibnouf, Lindsay, Sarah J., Lalloo, Fiona, Banos-Pinero, Benito, Evans, David, Mallin, Lucy, Waite, Adrian, Evans, Julie, Newman, Andrew, Alllen, Zoe, Perez-Becerril, Christina, Ryan, Gavin, Hart, Rachel, Taylor, John, Bedenham, Tina, Clement, Emma, Blair, Ed, Hay, Eleanor, Forzano, Francesca, Higgs, Jenny, Canham, Natalie, Majumdar, Anirban, McEntagart, Meriel, Lahiri, Nayana, Stewart, Helen, Smithson, Sarah, Calpena, Eduardo, Jackson, Adam, Banka, Siddharth, Titheradge, Hannah, McGowan, Ruth, Rankin, Julia, Shaw-Smith, Charles, Evans, D. Gareth, Burghel, George J., Smith, Miriam J., Anderson, Emily, Madhu, Rajesh, Firth, Helen, Ellard, Sian, Brennan, Paul, Anderson, Claire, Taupin, Doug, Rogers, Mark T., Cook, Jackie A., Durkie, Miranda, East, James E., Fowler, Darren, Wilson, Louise, Igbokwe, Rebecca, Gardham, Alice, Tomlinson, Ian, Baralle, Diana, Uhlig, Holm H., Taylor, Jenny C.

وصف الملف: text; slideshow; spreadsheet

العلاقة: https://eprints.soton.ac.uk/490818/1/AJHG_INVERSION_MANUSCRIPT_V13.docxTest; https://eprints.soton.ac.uk/490818/2/AJHG_INVERSION_MANUSCRIPT_SUPPLEMENTARY_v7.pdfTest; https://eprints.soton.ac.uk/490818/3/Figure_1_results_overview_V2.pptxTest; https://eprints.soton.ac.uk/490818/4/Figure_2_RNA_V2.pptxTest; https://eprints.soton.ac.uk/490818/5/Figure_3_MSH2_Founder_V4.pptxTest; https://eprints.soton.ac.uk/490818/6/Figure_4_MECP2_ambiguous_V8.pptxTest; https://eprints.soton.ac.uk/490818/7/Figure_5_HOXD_odyssey_V3.pptxTest; https://eprints.soton.ac.uk/490818/8/Figure_6_APC_conundrumV5.pptxTest; https://eprints.soton.ac.uk/490818/9/Graphical_abstract_fifth_revision.pdfTest; https://eprints.soton.ac.uk/490818/10/TableS1_HI3genes_ClinGen.xlsxTest; https://eprints.soton.ac.uk/490818/11/TableS2_inversions_grouped_revision5.xlsxTest; Pagnamenta, Alistair T., Yu, Jing, Walker, Susan, Noble, Alexandra J., Lord, Jenny, Dutta, Prasun, Hashim, Mona, Camps, Carme, Green, Hannah, Devaiah, Smrithi, Nashef, Lina, Parr, Jason, Fratter, Carl, Hussein, Rana Ibnouf, Lindsay, Sarah J., Lalloo, Fiona, Banos-Pinero, Benito, Evans, David, Mallin, Lucy, Waite, Adrian, Evans, Julie, Newman, Andrew, Alllen, Zoe, Perez-Becerril, Christina, Ryan, Gavin, Hart, Rachel, Taylor, John, Bedenham, Tina, Clement, Emma, Blair, Ed, Hay, Eleanor, Forzano, Francesca, Higgs, Jenny, Canham, Natalie, Majumdar, Anirban, McEntagart, Meriel, Lahiri, Nayana, Stewart, Helen, Smithson, Sarah, Calpena, Eduardo, Jackson, Adam, Banka, Siddharth, Titheradge, Hannah, McGowan, Ruth, Rankin, Julia, Shaw-Smith, Charles, Evans, D. Gareth, Burghel, George J., Smith, Miriam J., Anderson, Emily, Madhu, Rajesh, Firth, Helen, Ellard, Sian, Brennan, Paul, Anderson, Claire, Taupin, Doug, Rogers, Mark T., Cook, Jackie A., Durkie, Miranda, East, James E., Fowler, Darren, Wilson, Louise, Igbokwe, Rebecca, Gardham, Alice, Tomlinson, Ian, Baralle, Diana, Uhlig, Holm H. and Taylor, Jenny C. (2024) The impact of inversions across 33,924 families with rare disease from a national genome sequencing project. The American Journal of Human Genetics, 111 (6), 1140-1164. (doi:10.1016/j.ajhg.2024.04.018 ).

الإتاحة: https://doi.org/10.1016/j.ajhg.2024.04.018Test
https://eprints.soton.ac.uk/490818Test/
https://eprints.soton.ac.uk/490818/1/AJHG_INVERSION_MANUSCRIPT_V13.docxTest
https://eprints.soton.ac.uk/490818/2/AJHG_INVERSION_MANUSCRIPT_SUPPLEMENTARY_v7.pdfTest
https://eprints.soton.ac.uk/490818/3/Figure_1_results_overview_V2.pptxTest
https://eprints.soton.ac.uk/490818/4/Figure_2_RNA_V2.pptxTest
https://eprints.soton.ac.uk/490818/5/Figure_3_MSH2_Founder_V4.pptxTest
https://eprints.soton.ac.uk/490818/6/Figure_4_MECP2_ambiguous_V8.pptxTest
https://eprints.soton.ac.uk/490818/7/Figure_5_HOXD_odyssey_V3.pptxTest
https://eprints.soton.ac.uk/490818/8/Figure_6_APC_conundrumV5.pptxTest

المؤلفون: Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)

مصطلحات موضوعية: autosomal recessive, copy number variant, ELOVL4, neuro‐ichthyosis, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/c1b6f0f9da914f4fab255230f81999dfTest

المؤلفون: Jansen, S, Geuer, S, Pfundt, R, Brough, R, Ghongane, P, Herkert, JC, Marco, EJ, Willemsen, MH, Kleefstra, T, Hannibal, M, Shieh, JT, Lynch, SA, Flinter, F, FitzPatrick, DR, Gardham, A, Bernhard, B, Ragge, N, Newbury-Ecob, R, Bernier, R, Kvarnung, M, Magnusson, EAH, Wessels, MW, van Slegtenhorst, MA, Monaghan, KG, de Vries, P, Veltman, JA, Lord, CJ, Vissers, LELM, de Vries, BBA

المصدر: American journal of human genetics. 100(4):650-658

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:135465810Test

المؤلفون: Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, Katherine A. Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, Loïc M. Thibaut, Jonathan Williams, Edward M. Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M. Lees, Harry G. Leitch, Jenny E. V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J. Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W. Davies, Andrew O. M. Wilkie, Anne Goriely

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/092225fc6615446f96c5855f1911ddeeTest

المؤلفون: Gardham, Daniel Lewis

المساهمون: Manulis, Mark

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.847780Test

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

المصدر: EMBO Molecular Medicine, Vol 15, Iss 3, Pp n/a-n/a (2023)

مصطلحات موضوعية: diabetes mellitus, endoplasmic reticulum chaperone, mutation, nucleotidyltransferases, post‐translational, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1757-4676Test; https://doaj.org/toc/1757-4684Test

الوصول الحر: https://doaj.org/article/39116a8baac7473c85e71501c8fe0c4eTest

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

وصف الملف: text

العلاقة: https://publications.aston.ac.uk/id/eprint/45859/1/Sunwoo_Lee_et_al_Germline_pathogenic_variants_in_HNRNPU_and_blood_methylome.pdfTest; Lee, Sunwoo, Ochoa, Eguzkine, Badura-Stronka, Magdalena, Donnelly, Deirdre, Lederer, Damien, Lynch, Sally A., Gardham, Alice, Morton, Jenny, Stewart, Helen, Docquier, France, Rodger, Fay, Martin, Ezequiel, Toribio, Ana, Maher, Eamonn R. and Balasubramanian, Meena (2023). Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome. European Journal of Human Genetics, 31 (9), pp. 1040-1047.

الإتاحة: https://publications.aston.ac.uk/id/eprint/45859Test/
https://publications.aston.ac.uk/id/eprint/45859/1/Sunwoo_Lee_et_al_Germline_pathogenic_variants_in_HNRNPU_and_blood_methylome.pdfTest

المؤلفون: Saida, K, Maroofian, R, Sengoku, T, Mitani, T, Pagnamenta, AT, Marafi, D, Zaki, MS, O'Brien, TJ, Karimiani, EG, Kaiyrzhanov, R, Takizawa, M, Ohori, S, Leong, HY, Akay, G, Galehdari, H, Zamani, M, Romy, R, Carroll, CJ, Toosi, MB, Ashrafzadeh, F, Imannezhad, S, Malek, H, Ahangari, N, Tomoum, H, Gowda, VK, Srinivasan, VM, Murphy, D, Dominik, N, Elbendary, HM, Rafat, K, Yilmaz, S, Kanmaz, S, Serin, M, Krishnakumar, D, Gardham, A, Maw, A, Rao, TS, Alsubhi, S, Srour, M, Buhas, D, Jewett, T, Goldberg, RE, Shamseldin, H, Frengen, E, Misceo, D, Strømme, P, Magliocco Ceroni, JR, Kim, CA, Yesil, G, Sengenc, E, Guler, S, Hull, M, Parnes, M, Aktas, D, Anlar, B, Bayram, Y, Pehlivan, D, Posey, JE, Alavi, S, Madani Manshadi, SA, Alzaidan, H, Al-Owain, M, Alabdi, L, Abdulwahab, F, Sekiguchi, F, Hamanaka, K, Fujita, A, Uchiyama, Y, Mizuguchi, T, Miyatake, S, Miyake, N, Elshafie, RM, Salayev, K, Guliyeva, U, Alkuraya, FS, Gleeson, JG, Monaghan, KG, Langley, KG, Yang, H, Motavaf, M, Safari, S, Alipour, M, Ogata, K, Brown, AEX, Lupski, JR, Houlden, H, Matsumoto, N

المصدر: Genetics in Medicine , 25 (1) pp. 90-102. (2023)

مصطلحات موضوعية: Brain monoamine vesicular transport disease, Dopamine agonist, Dystonia, SLC18A2, VMAT2, Humans, Animals, Rats, Caenorhabditis elegans, Vesicular Monoamine Transport Proteins, Brain Diseases, Movement Disorders, Amines, Brain

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10184407/1/1-s2.0-S1098360022009480-am.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10184407Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10184407/1/1-s2.0-S1098360022009480-am.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10184407Test/

المؤلفون: Oppermann, Henry, Marcos-Grañeda, Elia, Weiss, Linnea A., Gurnett, Christina A., Jelsig, Anne Marie, Vineke, Susanne H., Isidor, Bertrand, Mercier, Sandra, Magnussen, Kari, Zacher, Pia, Hashim, Mona, Pagnamenta, Alistair T., Race, Simone, Srivastava, Siddharth, Frazier, Zoë, Maiwald, Robert, Pergande, Matthias, Milani, Donatella, Rinelli, Martina, Levy, Jonathan, Krey, Ilona, Fontana, Paolo, Lonardo, Fortunato, Riley, Stephanie, Kretzer, Jasmine, Rankin, Julia, Reis, Linda M., Semina, Elena V., Reuter, Miriam S., Scherer, Stephen W., Iascone, Maria, Weis, Denisa, Fagerberg, Christina R., Brasch-Andersen, Charlotte, Hansen, Lars Kjaersgaard, Kuechler, Alma, Noble, Nathan, Gardham, Alice, Tenney, Jessica, Rathore, Geetanjali, Beck-Woedl, Stefanie, Haack, Tobias B., Pavlidou, Despoina C., Atallah, Isis, Vodopiutz, Julia, Janecke, Andreas R., Hsieh, Tzung Chien, Lesmann, Hellen, Klinkhammer, Hannah, Krawitz, Peter M., Lemke, Johannes R., Jamra, Rami Abou, Nieto, Marta, Tümer, Zeynep, Platzer, Konrad

المصدر: Oppermann , H , Marcos-Grañeda , E , Weiss , L A , Gurnett , C A , Jelsig , A M , Vineke , S H , Isidor , B , Mercier , S , Magnussen , K , Zacher , P , Hashim , M , Pagnamenta , A T , Race , S , Srivastava , S , Frazier , Z , Maiwald , R , Pergande , M , Milani , D , Rinelli , M , Levy , J , Krey , I , Fontana , P , Lonardo , F , Riley , ....

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/aa171641-9049-44ce-a58b-3ccc6d707efeTest

الإتاحة: https://doi.org/10.1038/s41431-023-01445-2Test
https://portal.findresearcher.sdu.dk/da/publications/aa171641-9049-44ce-a58b-3ccc6d707efeTest
https://findresearcher.sdu.dk/ws/files/245118658/s41431_023_01445_2.pdfTest