المؤلفون: Mingardo, E, Beaman, G, Grote, P, Nordenskjold, A, Newman, W, Woolf, AS, Eckstein, M, Hilger, AC, Dworschak, GC, Rosch, W, Ebert, AK, Stein, R, Brusco, A, Di Grazia, M, Tamer, A, Torres, FM, Hernandez, JL, Erben, P, Maj, C, Olmos, JM, Riancho, JA, Valero, C, Hostettler, IC, Houlden, H, Werring, DJ, Schumacher, J, Gehlen, J, Giel, AS, Buerfent, BC, Arkani, S, Akesson, E, Rotstein, E, Ludwig, M, Holmdahl, G, Giorgio, E, Berettini, A, Keene, D, Cervellione, RM, Younsi, N, Ortlieb, M, Oswald, J, Haid, B, Promm, M, Neissner, C, Hirsch, K, Stehr, M, Schafer, FM, Schmiedeke, E, Boemers, TM, van Rooij, IALM, Feitz, WFJ, Marcelis, CLM, Lacher, M, Nelson, J, Ure, B, Fortmann, C, Gale, DP, Chan, MMY, Ludwig, KU, Nothen, MM, Heilmann, S, Zwink, N, Jenetzky, E, Odermatt, B, Knapp, M, Reutter, H

المصدر: Communications biology. 5(1):1203

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:151211730Test

المؤلفون: Pagnamenta, AT, Jackson, A, Perveen, R, Beaman, G, Petts, G, Gupta, A, Hyder, Z, Chung, BH, Kan, AS, Cheung, KW, Kerstjens‐Frederikse, WS, Abbott, KM, Ambrose, JC, Arumugam, P, Bevers, R, Bleda, M, Boardman‐Pretty, F, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Elgar, G, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, TJP, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, SEA, Leong, IUS, Lopez, JF, Maleady‐Crowe, F, McEntagart, M, Minneci, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, O′Donovan, P, Odhams, CA, Patch, C, Pereira, MB, Perez‐Gil, D, Pullinger, J, Rahim, T

العلاقة: https://ora.ox.ac.uk/objects/uuid:ec0859e6-8c25-441e-965b-425202b8c40cTest; https://doi.org/10.1111/cge.14071Test

الإتاحة: https://doi.org/10.1111/cge.14071Test
https://ora.ox.ac.uk/objects/uuid:ec0859e6-8c25-441e-965b-425202b8c40cTest

المؤلفون: Rowlands, C, Thomas, HB, Lord, J, Wai, HA, Arno, G, Beaman, G, Sergouniotis, P, Gomes-Silva, B, Campbell, C, Gossan, N, Hardcastle, C, Webb, K, O'Callaghan, C, Hirst, RA, Ramsden, S, Jones, E, Clayton-Smith, J, Webster, AR, Genomics England Research Consortium, Douglas, AGL, O'Keefe, RT, Newman, WG, Baralle, D, Black, GCM, Ellingford, JM

المصدر: Scientific Reports , 11 , Article 20607. (2021)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10137922/1/s41598-021-99747-2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10137922Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10137922/1/s41598-021-99747-2.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10137922Test/

المؤلفون: Houweling A. C., Beaman G. M., Postma A. V., Blair Gainous T., Lichtenbelt K. D., Brancati F., Lopes F. M., Van Der Made I., Polstra A. M., Robinson M. L., Wright K. D., Ellingford J. M., Jackson A. R., Overwater E., Genesio R., Romano S., Camerota L., D'Angelo E., Meijers-Heijboer E. J., Christoffels V. M., McHugh K. M., Black B. L., Newman W. G., Woolf A. S., Creemers E. E.

المساهمون: Houweling, A. C., Beaman, G. M., Postma, A. V., Blair Gainous, T., Lichtenbelt, K. D., Brancati, F., Lopes, F. M., Van Der Made, I., Polstra, A. M., Robinson, M. L., Wright, K. D., Ellingford, J. M., Jackson, A. R., Overwater, E., Genesio, R., Romano, S., Camerota, L., D'Angelo, E., Meijers-Heijboer, E. J., Christoffels, V. M., Mchugh, K. M., Black, B. L., Newman, W. G., Woolf, A. S., Creemers, E. E.

مصطلحات موضوعية: Genetic disease, Molecular genetic, Muscle Biology, Urology

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31513549; info:eu-repo/semantics/altIdentifier/wos/WOS:000500567600031; volume:129; issue:12; firstpage:5374; lastpage:5380; numberofpages:7; journal:THE JOURNAL OF CLINICAL INVESTIGATION; http://hdl.handle.net/11564/723456Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85075961425; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6877301Test/

الإتاحة: https://doi.org/10.1172/JCI128545Test
http://hdl.handle.net/11564/723456Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6877301Test/

المؤلفون: Zhang, R, Knapp, M, Suzuki, K, Kajioka, D, Schmidt, JM, Winkler, J, Yilmaz, O, Pleschka, M, Cao, J, Kockum, CC, Barker, G, Holmdahl, G, Beaman, G, Keene, D, Woolf, AS, Cervellione, RM, Cheng, W, Wilkins, S, Gearhart, JP, Sirchia, F, Di Grazia, M, Ebert, AK, Rosch, W, Ellinger, J, Jenetzky, E, Zwink, N, Feitz, WF, Marcelis, C, Schumacher, J, Martinon-Torres, F, Hibberd, ML, Khor, CC, Heilmann-Heimbach, S, Barth, S, Boyadjiev, SA, Brusco, A, Ludwig, M, Newman, W, Nordenskjold, A, Yamada, G, Odermatt, B, Reutter, H

المصدر: Scientific reports. 7:42170

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:135109617Test

المؤلفون: Rieke J. M., Zhang R., Braun D., Yilmaz O., Japp A. S., Lopes F. M., Pleschka M., Hilger A. C., Schneider S., Newman W. G., Beaman G. M., Nordenskjold A., Ebert A. -K., Promm M., Rosch W. H., Stein R., Hirsch K., Schafer F. -M., Schmiedeke E., Boemers T. M., Lacher M., Kluth D., Gosemann J. -H., Anderberg M., Barker G., Holmdahl G., Lackgren G., Keene D., Cervellione R. M., Giorgio E., Di Grazia M., Feitz W. F. J., Marcelis C. L. M., Van Rooij I. A. L. M., Bokenkamp A., Beckers G. M. A., Keegan C. E., Sharma A., Dakal T. C., Wittler L., Grote P., Zwink N., Jenetzky E., Brusco A., Thiele H., Ludwig M., Schweizer U., Woolf A. S., Odermatt B., Reutter H.

المساهمون: Rieke J.M., Zhang R., Braun D., Yilmaz O., Japp A.S., Lopes F.M., Pleschka M., Hilger A.C., Schneider S., Newman W.G., Beaman G.M., Nordenskjold A., Ebert A.-K., Promm M., Rosch W.H., Stein R., Hirsch K., Schafer F.-M., Schmiedeke E., Boemers T.M., Lacher M., Kluth D., Gosemann J.-H., Anderberg M., Barker G., Holmdahl G., Lackgren G., Keene D., Cervellione R.M., Giorgio E., Di Grazia M., Feitz W.F.J., Marcelis C.L.M., Van Rooij I.A.L.M., Bokenkamp A., Beckers G.M.A., Keegan C.E., Sharma A., Dakal T.C., Wittler L., Grote P., Zwink N., Jenetzky E., Brusco A., Thiele H., Ludwig M., Schweizer U., Woolf A.S., Odermatt B., Reutter H.

مصطلحات موضوعية: bladder exstrophy-epispadias complex, CAKUT, cloacal malformation, functional genetic, kidney formation, SLC20A1, urinary tract development, zebrafish development

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32850778; info:eu-repo/semantics/altIdentifier/wos/WOS:000563202400001; volume:8; firstpage:1; lastpage:16; numberofpages:16; journal:FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY; http://hdl.handle.net/2318/1755098Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089850545; https://www.frontiersin.org/articles/10.3389/fcell.2020.00567/fullTest

الإتاحة: https://doi.org/10.3389/fcell.2020.00567Test
http://hdl.handle.net/2318/1755098Test

المؤلفون: Rieke, J., Zhang, R., Braun, D., Yilmaz, Ö., Japp, A., Lopes, F., Pleschka, M., Hilger, A., Schneider, S., Newman, W., Beaman, G., Nordenskjöld, A., Ebert, A., Promm, M., Roesch, W., Stein, R., Hirsch, K., Schäfer, F., Schmiedeke, E., Boemers, T., Lacher, M., Kluth, D., Gosemann, J., Anderberg, M., Barker, G., Holmdahl, G., Läckgren, G., Keene, D., Cervellione, R., Giorgio, E., Di Grazia, M., Wouter, F., Marcelis, C., Van Rooij, I., Bökenkamp, A., Beckers, G., Keegan, C., Sharma, A., Chand Dakal, T., Wittler, L., Grote, P., Zwink, N., Jenetzky, E., Brusco, A., Thiele, H., Ludwig, M., Schweizer, U., Woolf, A., Odermatt, B., Reutter, H.

المصدر: Frontiers in Cell and Developmental Biology

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/21.11116/0000-0008-7A25-6Test; http://hdl.handle.net/21.11116/0000-0008-7A27-4Test

الإتاحة: https://doi.org/10.3389/fcell.2020.00567Test
http://hdl.handle.net/21.11116/0000-0008-7A25-6Test
http://hdl.handle.net/21.11116/0000-0008-7A27-4Test

المؤلفون: Banka, S, Hardman, J, Pye, D, Torrelo, A, Beaman, G, Kazanietz, MG, Orozco, G, Eyre, S, van Geel, M, Bygum, A, Miedzybrodzka, Z, Abuzahra, F, Ruebben, A, Cuvertino, S, Ellingford, J, Evans, DG, Weppner-Parren, L, van Steensel, M, Mangham, DC, Lear, J, Paus, R, Frank, J, Newman, W

المصدر: Banka , S , Hardman , J , Pye , D , Torrelo , A , Beaman , G , Kazanietz , MG , Orozco , G , Eyre , S , van Geel , M , Bygum , A , Miedzybrodzka , Z , Abuzahra , F , Ruebben , A , Cuvertino , S , Ellingford , J , Evans , DG , Weppner-Parren , L , van Steensel , M , Mangham , DC , Lear , J , Paus , R , Frank , J & Newman , W 2023 , ' P13.087.A Germline intergenic ....

العلاقة: https://research.manchester.ac.uk/en/publications/2681ad4a-4bdf-4874-960e-c81ae0c051eaTest

الإتاحة: https://doi.org/10.1038/s41431-023-01346-4Test
https://research.manchester.ac.uk/en/publications/2681ad4a-4bdf-4874-960e-c81ae0c051eaTest
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:001050507001705&DestLinkType=FullRecord&DestApp=WOSTest

المؤلفون: Pagnamenta, AT, Jackson, A, Perveen, R, Beaman, G, Petts, G, Gupta, A, Hyder, Z, Chung, BH, Kan, AS, Cheung, KW, Kerstjens‐Frederikse, WS, Abbott, KM, Ambrose, JC, Arumugam, P, Bevers, R, Bleda, M, Boardman‐Pretty, F, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Elgar, G, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, TJP, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, SEA, Leong, IUS, Lopez, JF, Maleady‐Crowe, F, McEntagart, M, Minneci, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, O′Donovan, P, Odhams, CA, Patch, C, Pereira, MB, Perez‐Gil, D, Pullinger, J, Rahim, T

المصدر: Clinical Genetics, 101(1), 127-133. Wiley
Genomics England Research Consortium 2021, ' Biallelic TMEM260 variants cause Truncus Arteriosus, with or without renal defects ', Clinical Genetics . https://doi.org/10.1111/cge.14071Test

مصطلحات موضوعية: Heart Defects, Congenital, Heterozygote, medicine.medical_specialty, kidney, renal failure, Genotype, media_common.quotation_subject, Nonsense, Persistent truncus arteriosus, Gastroenterology, Internal medicine, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Family, Genetic Predisposition to Disease, structural heart defects and renal anomalies syndrome, truncus arteriosus, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, media_common, Kidney, business.industry, Membrane Proteins, medicine.disease, Phenotype, Elevated creatinine, genome sequencing, TMEM260, medicine.anatomical_structure, Amino Acid Substitution, SHDRA, RNA splicing, Kidney Diseases, phenotypic variability, business, exome sequencing

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c58d901ed71759167989e288517a3e14Test
https://research.rug.nl/en/publications/e564d3dc-f07b-49e8-9cf5-2e74c7a70c53Test

المؤلفون: Ellingford, JM, Thomas, HB, Rowlands, C, Arno, G, Beaman, G, Gomes-Silva, B, Campbell, C, Gossan, N, Hardcastle, C, Webb, K, O'Callaghan, C, Hirst, RA, Consortium, Genomics England Research

المصدر: Ellingford , JM , Thomas , HB , Rowlands , C , Arno , G , Beaman , G , Gomes-Silva , B , Campbell , C , Gossan , N , Hardcastle , C , Webb , K , O'Callaghan , C , Hirst , RA & Consortium , G E R 2019 , ' Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders ' , bioRxiv . https://doi.org/10.1101/781088Test

الإتاحة: https://doi.org/10.1101/781088Test
https://research.manchester.ac.uk/en/publications/c7f2304b-2017-44c6-9c8d-fd2d90bea083Test
http://europepmc.org/abstract/PPR/PPR93882Test