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1دورية أكاديمية
المؤلفون: Oud, M.S., Smits, R.M., Smith, H.E., Mastrorosa, F.K., Holt, G.S., Houston, B.J., de Vries, P.F., Alobaidi, B.K.S., Batty, L.E., Ismail, H., Greenwood, J., Sheth, H., Mikulasova, A., Astuti, G.D.N., Gilissen, C., McEleny, K., Turner, H., Coxhead, J., Cockell, S., Braat, D.D.M., Fleischer, K., D’Hauwers, K.W.M., Schaafsma, E., Conrad, Donald F., Nagirnaja, Liina, Aston, Kenneth I., Carrell, Douglas T., Hotaling, James M., Jenkins, Timothy G., McLachlan, Rob, O’Bryan, Moira K., Schlegel, Peter N., Eisenberg, Michael L., Sandlow, Jay I., Jungheim, Emily S., Omurtag, Kenan R., Lopes, Alexandra M., Seixas, Susana, Carvalho, Filipa, Fernandes, Susana, Barros, Alberto, Gonçalves, João, Caetano, Iris, Pinto, Graça, Correia, Sónia, Laan, Maris, Punab, Margus, Meyts, Ewa Rajpert-De, Jørgensen, Niels, Almstrup, Kristian, Krausz, Csilla G., Jarvi, Keith A., Nagirnaja, L., Conrad, D.F., Friedrich, C., Kliesch, S., Aston, K.I., Riera-Escamilla, A., Krausz, C., Gonzaga-Jauregui, C., Santibanez-Koref, M., Elliott, D. J., Vissers, L.E.L.M., Tüttelmann, F., O’Bryan, M.K., Ramos, L., Xavier, M.J., van der Heijden, G.W., Veltman, J.A.
مصطلحات موضوعية: Male Infertility, Infertile Man, Spermatogenesis, Genética Humana, Doenças Genéticas
العلاقة: info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F00009%2F2020/PT; info:eu-repo/grantAgreement/WT/Genetics, Genomics and Population Research/209451; https://www.nature.com/articles/s41467-021-27132-8Test; Nat Commun. 2022 Jan 10;13(1):154. doi:10.1038/s41467-021-27132-8; http://hdl.handle.net/10400.18/8497Test
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2دورية أكاديمية
المؤلفون: Wyrwoll, M.J., Heijden, G.W. van der, Krausz, C., Aston, K.I., Kliesch, S., McLachlan, R., Ramos, L., Conrad, D.F., O'Bryan, M.K., Veltman, J.A., Tüttelmann, F.
المصدر: Nature Reviews. Urology, 21, 2, pp. 91-101
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 0: Other Research Gynaecology
الإتاحة: https://doi.org/10.1038/s41585-023-00816-0Test
https://repository.ubn.ru.nl/handle/2066/303492Test -
3
المؤلفون: Friedrich, C., Temel, S.G., Nagirnaja, L., Oud, M.S., Lopes, A.M., van der Heijden, G.W., Heald, J., Rotte, N., Wistuba, J., Wöste, M., Ledig, S., Krenz, H., Smits, R.M., Carvalho, F., Gonçalves, João, Fietz, D., Türkgenç, B., Ergören, M.C., Çetinkaya, M., Başar, M., Kahraman, S., McEleny, K., Xavier, M.J., Turner, H., Pilatz, A., Röpke, A., Dugas, M., Kliesch, S., Neuhaus, N., GEMINI Consortium, Aston, K.I., Conrad, D.F., Veltman, J.A., Wyrwoll, M.J., Tüttelmann, F.
المساهمون: Repositório Científico do Instituto Nacional de Saúde
مصطلحات موضوعية: Azoospermia, M1AP, Male Infertility, Doenças Genéticas
وصف الملف: application/pdf
العلاقة: Eur J Hum Genet. 2020 Dec;28(Suppl 1):1002-1003.
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4مؤتمر
المؤلفون: Friedrich, C., Temel, S.G., Nagirnaja, L., Oud, M.S., Lopes, A.M., van der Heijden, G.W., Heald, J., Rotte, N., Wistuba, J., Wöste, M., Ledig, S., Krenz, H., Smits, R.M., Carvalho, F., Gonçalves, João, Fietz, D., Türkgenç, B., Ergören, M.C., Çetinkaya, M., Başar, M., Kahraman, S., McEleny, K., Xavier, M.J., Turner, H., Pilatz, A., Röpke, A., Dugas, M., Kliesch, S., Neuhaus, N., GEMINI Consortium, Aston, K.I., Conrad, D.F., Veltman, J.A., Wyrwoll, M.J., Tüttelmann, F.
مصطلحات موضوعية: Azoospermia, M1AP, Male Infertility, Doenças Genéticas
العلاقة: https://www.nature.com/articles/s41431-020-00741-5Test; Eur J Hum Genet. 2020 Dec;28(Suppl 1):1002-1003.; http://hdl.handle.net/10400.18/7444Test
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5دورية أكاديمية
المؤلفون: Barratt, C.L.R., De Jonge, C.J., Anderson, R.A., Eisenberg, M.L., Garrido, N., Rautakallio Hokkanen, S., Krausz, C., Kimmins, S., O’Bryan, M.K., Pacey, A.A., Tüttelmann, F., Veltman, J.A.
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/181841/1/hoab009.pdfTest; Barratt, C.L.R., De Jonge, C.J., Anderson, R.A. et al. (9 more authors) (2021) A global approach to addressing the policy, research and social challenges of male reproductive health. Human Reproduction Open, 2021 (1). hoab009. ISSN 2399-3529
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6دورية أكاديمية
المؤلفون: Oud, M.S., Volozonoka, L., Friedrich, C., Kliesch, S., Nagirnaja, L., Gilissen, C., O’Bryan, M.K., McLachlan, R.I., Aston, K.I., Tüttelmann, F., Conrad, D.F., Veltman, J.A.
المساهمون: National Institutes of Health, Wellcome Trust, National Health and Medical Research Council, Deutsche Forschungsgemeinschaft, Nederlandse Organisatie voor Wetenschappelijk Onderzoek
المصدر: Cell ; volume 184, issue 8, page 1941-1942 ; ISSN 0092-8674
مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology
الإتاحة: https://doi.org/10.1016/j.cell.2021.03.001Test
https://api.elsevier.com/content/article/PII:S0092867421002865?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0092867421002865?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Riazuddin, S., Hussain, M., Razzaq, A., Iqbal, Z., Shahzad, M., Polla, D.L., Song, Y., van Beusekom, E., Khan, A.A., Tomas-Roca, L., Rashid, M., Zahoor, M.Y., Wissink-Lindhout, W.M., Basra, M.A.R., Ansar, M., Agha, Z., van Heeswijk, K., Rasheed, F., Van de Vorst, M., Veltman, J.A., Gilissen, C., Akram, J., Kleefstra, T., Assir, M.Z., Grozeva, D., Carss, K., Raymond, F.L., O'Connor, T.D., Riazuddin, S.A., Khan, S.N., Ahmed, Z.M., de Brouwer, A.P.M., van Bokhoven, H., UK10K, U.K.1.0.K.
المصدر: Riazuddin , S , Hussain , M , Razzaq , A , Iqbal , Z , Shahzad , M , Polla , D L , Song , Y , van Beusekom , E , Khan , A A , Tomas-Roca , L , Rashid , M , Zahoor , M Y , Wissink-Lindhout , W M , Basra , M A R , Ansar , M , Agha , Z , van Heeswijk , K , Rasheed , F , Van de Vorst , M , Veltman , J A , Gilissen , C , Akram , J , ....
الإتاحة: https://doi.org/10.1038/s41380-018-0128-zTest
https://cris.maastrichtuniversity.nl/en/publications/f27df626-5d0a-40e5-9fab-11c9e62610c3Test -
8دورية أكاديمية
المؤلفون: Oud, M.S., Okutman, Hendricks, L.A.J., de Vries, P.F., Houston, B.J., Vissers, L.E.L.M., O'Bryan, M.K., Ramos, L., Chemes, H.E., Viville, S., Veltman, J.A.
مصطلحات موضوعية: Globozoospermia, acrosomal hypoplasia, ultrastructure, genetic diagnosis, gene mutation, male infertility, teratozoospermia, exome sequencing, acrosome, consanguinity
العلاقة: http://purl.org/au-research/grants/nhmrc/APP1120356Test; Human Reproduction, 2020; 35(1):240-252; http://hdl.handle.net/2440/124696Test; O'Bryan, M.K. [0000-0001-7298-4940]
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9دورية أكاديمية
المؤلفون: Wiel, L.J.M. van de, Hampstead, J.E., Venselaar, H., Vissers, L.E.L.M., Brunner, H.G., Pfundt, R.P., Vriend, G., Veltman, J.A., Gilissen, C.
المصدر: American Journal of Human Genetics, 110, 1, pp. 92-104
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Bioinformatics, Radboudumc 19: Nanomedicine CMBI, Radboudumc 6: Metabolic Disorders Human Genetics, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
الإتاحة: https://doi.org/10.1016/j.ajhg.2022.12.001Test
https://repository.ubn.ru.nl/handle/2066/290082Test -
10دورية أكاديمية
المؤلفون: Arts, P. (Peer), Simons, A. (Annet), Alzahrani, M.S. (Mofareh S.), Yilmaz, E. (Elanur), Alidrissi, E. (Eman), Van Aerde, K.J. (Koen J.), Alenezi, N. (Njood), Alghamdi, H.A. (Hamza A.), Aljubab, H.A. (Hadeel A.), Al-Hussaini, A. (Abdulrahman), Almanjomi, F. (Fahad), Alsaad, A.B. (Alaa B.), Alsaleem, B. (Badr), Andijani, A.A. (Abdulrahman A.), Asery, A. (Ali), Ballourah, W. (Walid), Bleeker-Rovers, C.P. (Chantal P.), Deuren, M. (Marcel) van, Flier, M. (Michiel) van der, Gerkes, E.H. (Erica H), Gilissen, C. (Christian), Habazi, M.K. (Murad K.), Hehir-Kwa, J. (Jayne), Henriet, S.S.V. (Stefanie S.V.), Hoppenreijs, E.P.A.H. (Esther), Hortillosa, S. (Sarah), Kerkhofs, C.H. (Chantal H.), Keski-Filppula, R. (Riikka), Lelieveld, S.H. (Stefan H.), Lone, K. (Khurram), MacKenzie, M.A. (Marius A.), Mensenkamp, A.R. (Arjen R.), Moilanen, J.S. (Jukka S), Nelen, M. (Marcel), Ten Oever, J. (Jaap), Potjewijd, J. (Judith), Paassen, P. (Pieter) van, Schuurs-Hoeijmakers, J.H.M. (Janneke H. M.), Simon, A. (Anna), Stokowy, T. (Tomasz), Van De Vorst, M. (Maartje), Vreeburg, J.T.M. (Jan), Wagner, A. (Anja), Van Well, G.T.J. (Gijs T. J.), Zafeiropoulou, D. (Dimitra), Zonneveld-Huijssoon, E. (Evelien), Veltman, J.A. (Joris), Zelst-Stams, W.A. van, Faqeih, E.A. (Eissa A.), Veerdonk, F. (Frank) van de, Netea, M.G. (Mihai), Hoischen, A. (Alex)
المصدر: Genome Medicine vol. 11 no. 1
مصطلحات موضوعية: Exome sequencing, Genetic diagnosis, Primary immunodeficiencies, Routine diagnostics
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/117385Test; urn:hdl:1765/117385
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