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1دورية أكاديمية
المؤلفون: Bryant, RJ, Yamamoto, H, Eddy, B, Kommu, S, Narahari, K, Omer, A, Leslie, T, Catto, JWF, Rosario, DJ, Good, DW, Gray, R, Liew, MPC, Lopez, JF, Campbell, T, Reynard, JM, Tuck, S, Barber, VS, Medeghri, N, Davies, L, Parkes, M, Hewitt, A, Landeiro, F, Wolstenholme, J, Macpherson, R, Verrill, C, Marian, IR, Williams, R, Hamdy, FC, Lamb, AD
العلاقة: https://ora.ox.ac.uk/objects/uuid:2caf10e4-b7e9-4602-9d83-1c44396ca51cTest; https://doi.org/10.1111/bju.15978Test
الإتاحة: https://doi.org/10.1111/bju.15978Test
https://ora.ox.ac.uk/objects/uuid:2caf10e4-b7e9-4602-9d83-1c44396ca51cTest -
2دورية أكاديمية
المؤلفون: Al-Jawahiri, R, Foroutan, A, Kerkhof, J, McConkey, H, Levy, M, Haghshenas, S, Rooney, K, Turner, J, Shears, D, Holder, M, Lefroy, H, Castle, B, Reis, LM, Semina, EV, Lachlan, K, Chandler, K, Wright, T, Clayton-Smith, J, Hug, FP, Pitteloud, N, Bartoloni, L, Hoffjan, S, Park, S-M, Thankamony, A, Lees, M, Wakeling, E, Naik, S, Hanker, B, Girisha, KM, Agolini, E, Giuseppe, Z, Alban, Z, Tessarech, M, Keren, B, Afenjar, A, Zweier, C, Reis, A, Smol, T, Tsurusaki, Y, Nobuhiko, O, Sekiguchi, F, Tsuchida, N, Matsumoto, N, Kou, I, Yonezawa, Y, Ikegawa, S, Callewaert, B, Freeth, M, Kleinendorst, L, Donaldson, A, Alders, M, De Paepe, A, Sadikovic, B, McNeill, A, Nickerson, D, Bamshad, M, Leal, S, 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, FionaMaleady-Crowe, 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, TahrimaRahim, Rendon, A, TimRogers, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smith, SC, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, AL, Thomas, ERA, Thompson, SR, Tucci, A, Welland, MJ, Williams, E, Witkowska, K, Wood, SM
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/190170/1/Al-Jawahiri%20et%20al.%202022.pdfTest; Al-Jawahiri, R orcid.org/0000-0002-5689-3368 , Foroutan, A, Kerkhof, J et al. (111 more authors) (2022) SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genetics in Medicine, 24 (6). pp. 1261-1273. ISSN 1098-3600
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المؤلفون: Bryant, RJ, Yamamoto, H, Eddy, B, Kommu, S, Narahari, K, Omer, A, Leslie, T, Catto, JWF, Rosario, DJ, Good, DW, Gray, R, Liew, MPC, Lopez, JF, Campbell, T, Reynard, JM, Tuck, S, Barber, VS, Medeghri, N, Davies, L, Parkes, M, Hewitt, A, Landeiro, F, Wolstenholme, J, Macpherson, R, Verrill, C, Marian, IR, Williams, R, Hamdy, FC, Lamb, AD
المصدر: BJU International. 131:694-704
مصطلحات موضوعية: Urology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c2b29230e608544e15f9d45b93bc8e9Test
https://doi.org/10.1111/bju.15978Test -
4دورية أكاديمية
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 -
5دورية أكاديمية
المؤلفون: Pagnamenta, AT, Kaiyrzhanov, R, Zou, Y, Da'as, SI, Maroofian, R, Donkervoort, S, Dominik, N, Lauffer, M, Ferla, MP, Orioli, A, Giess, A, Tucci, A, Beetz, C, Sedghi, M, Ansari, B, Barresi, R, Basiri, K, Cortese, A, Elgar, G, Fernandez-Garcia, MA, Yip, J, Foley, AR, Gutowski, N, Jungbluth, H, Lassche, S, Lavin, T, Marcelis, C, Marks, P, Marini-Bettolo, C, Medne, L, Moslemi, A-R, Sarkozy, A, Reilly, MM, Muntoni, F, Millan, F, Muraresku, CC, Need, AC, Nemeth, AH, Neuhaus, SB, Norwood, F, O'Donnell, M, O’Driscoll, M, Rankin, J, Yum, SW, Zolkipli-Cunningham, Z, Brusius, I, Wunderlich, G, Ambrose, JC, Arumugam, P, Baple, EL, Bleda, M, Boardman-Pretty, F, Boissiere, JM, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Craig, CEH, Daugherty, LC, de Burca, A, Devereau, A, Foulger, RE, Fowler, T, Furió-Tarí, P, Hackett, JM, Halai, D, Hamblin, A, Henderson, S, Holman, JE, Hubbard, TJP, ibáñez, K, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lawson, K, Leigh, SEA, Leong, IUS, Lopez, JF, Maleady-Crowe, F, Mason, J, McDonagh, EM, Moutsianas, L, Mueller, M, Murugaesu, N, O’Donovan, P, Odhams, CA, Patch, C, Pereira, MB, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smedley, D, Smith, KR, Smith, SC, Sosinsky, A, Spooner, W, Stevens, HE, Stuckey, A, Sultana, R, Tanguy, M, Thomas, ERA, Thompson, SR, Tregidgo, C, Walsh, E, Watters, SA, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M, Karakaya, M, Wirth, B, Fakhro, KA, Tajsharghi, H, Bönnemann, CG, Taylor, JC, Houlden, H
العلاقة: Brain; Alistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, Sahar I Da'as, Reza Maroofian, Sandra Donkervoort, Natalia Dominik, Marlen Lauffer, Matteo P Ferla, Andrea Orioli, Adam Giess, Arianna Tucci, Christian Beetz, Maryam Sedghi, Behnaz Ansari, Rita Barresi, Keivan Basiri, Andrea Cortese, Greg Elgar, Miguel A Fernandez-Garcia, Janice Yip, A Reghan Foley, Nicholas Gutowski, Heinz Jungbluth, Saskia Lassche, Tim Lavin, Carlo Marcelis, Peter Marks, Chiara Marini-Bettolo, Livija Medne, Ali-Reza Moslemi, Anna Sarkozy, Mary M Reilly, Francesco Muntoni, Francisca Millan, Colleen C Muraresku, Anna C Need, Andrea H Nemeth, Sarah B Neuhaus, Fiona Norwood, Marie O'Donnell, Mary O’Driscoll, Julia Rankin, Sabrina W Yum, Zarazuela Zolkipli-Cunningham, Isabell Brusius, Gilbert Wunderlich, Genomics England Research Consortium, Mert Karakaya, Brunhilde Wirth, Khalid A Fakhro, Homa Tajsharghi, Carsten G Bönnemann, Jenny C Taylor, Henry Houlden, An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy, Brain, 2021;, awaa420, https://doi.org/10.1093/brain/awaa420Test; https://qmro.qmul.ac.uk/xmlui/handle/123456789/70063Test
الإتاحة: https://doi.org/10.1093/brain/awaa420Test
https://qmro.qmul.ac.uk/xmlui/handle/123456789/70063Test -
6دورية أكاديمية
المؤلفون: Freeman, TM, Wang, D, Harris, J, Ambrose, JC, Arumugam, P, Baple, EL, Bleda, M, Boardman-Pretty, F, Boissiere, JM, Boustred, CR, Caulfield, MJ, Chan, GC, Craig, CEH, Daugherty, LC, de Burca, A, Devereau, A, Elgar, G, Foulger, RE, Fowler, T, Furio-Tari, P, Hackett, JM, Halai, D, Hamblin, A, Henderson, S, Holman, JE, Hubbard, TJP, Ibanez, K, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Lahnstein, L, Lawson, K, Leigh, SEA, Leong, IUS, Lopez, JF, Maleady-Crowe, F, Mason, J, McDonagh, EM, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, Odhams, CA, Patch, C, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smedley, D, Smith, KR, Sosinsky, A, Spooner, W, Stevens, HE, Stuckey, A, Sultana, R, Thomas, ERA, Thompson, SR, Tregidgo, C, Tucci, A, Walsh, E, Watters, SA, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M
المصدر: Genome Research , 30 (3) pp. 415-426. (2020)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10094957/1/Genome%20Res.-2020-Freeman-415-26.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10094957Test/
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7مؤتمر
المؤلفون: Lopez, JF., Shimoni, M., Forget, Y., Grippa, T., Wolff, E., Linard, C., Gilbert, M.
العلاقة: https://zenodo.org/record/1182953Test; https://doi.org/10.5281/zenodo.1182953Test; oai:zenodo.org:1182953
الإتاحة: https://doi.org/10.5281/zenodo.1182953Test
https://doi.org/10.5281/zenodo.1182952Test
https://zenodo.org/record/1182953Test -
8دورية أكاديمية
المؤلفون: Kenix LJ, Bolanos Lopez JF
مصطلحات موضوعية: COVID-19, crisis communication, government, ideology, 1902 Film, Television and Digital Media, 1903 Journalism and Professional Writing, 2001 Communication and Media Studies, Fields of Research::47 - Language, communication and culture::4701 - Communication and media studies::470106 - Media industry studies, communication and culture::4701 - Communication and media studies::470105 - Journalism studies, communication and culture::4701 - Communication and media studies::470101 - Communication studies, Fields of Research::44 - Human society::4408 - Political science::440803 - Comparative government and politics, Fields of Research::44 - Human society::4408 - Political science::440811 - Political theory and political philosophy
وصف الملف: application/pdf
العلاقة: Kenix LJ, Bolanos Lopez JF (202). A thematic exploration of three countries’ government communication during the COVID-19 crisis and corresponding media coverage. Communication Research and Practice. 1-18.; https://hdl.handle.net/10092/104164Test; http://doi.org/10.1080/22041451.2022.2058748Test
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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.14071Testمصطلحات 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 -
10دورية أكاديمية
المؤلفون: Micolta López JF, Oltra Badenes, Raúl Francisco
المساهمون: Universitat Politècnica de València. Departamento de Organización de Empresas - Departament d'Organització d'Empreses
مصطلحات موضوعية: Organización, Clientes, Procesos, Productividad, Biométrica, Organizations, Clients, Processes, Productivity, Biometric, ORGANIZACION DE EMPRESAS
العلاقة: 3C TIC, cuadernos de desarrollo aplicados a las TIC; http://www.3ciencias.com/revistas/categoria/ticTest; http://hdl.handle.net/10251/94985Test; urn:eissn:2254-6529
النص الكامل