المؤلفون: Wisnumurti, D.A. (Dewi A.), Sribudiani, Y. (Yunia), Porsch, R.M. (Robert M.), Maskoen, A.M. (Ani M.), Rahayuningsih, S.E. (Sri E.), Asni, E.K. (Eni K.), Sleutels, F. (Frank), IJcken, W.F.J. (Wilfred) van, Sukadi, A. (Abdurachman), Achmad, T.H. (Tri H.)

المصدر: B M C Pediatrics vol. 19 no. 1

مصطلحات موضوعية: Deutromalay, G6PD deficiency, Genetics variation, Neonatal Hyperbilirubinemia

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/122985; urn:hdl:1765/122985

الاتاحة: http://repub.eur.nl/pub/122985
https://doi.org/10.1186/s12887-019-1882-z

المؤلفون: Sribudiani, Y. (Yunia), Chauhan, R.K. (Rajendra), Alves, M.M. (Maria), Petrova, L. (Lucy), Brosens, E. (Erwin), Harrison, C. (Colin), Wabbersen, T.D. (Tara), Graaf, B.M. (Bianca) de, Rügenbrink, T. (Tim), Burzynski, G.M. (Grzegorz), Brouwer, R.W.W. (Rutger), IJcken, W.F.J. (Wilfred) van, Maas, S.M. (Saskia), Klein, A. (Annelies) de, Osinga, J. (Jan), Eggen, B.J. (Bart), Burns, A.J. (Alan), Brooks, A.S. (Alice), Shepherd, I.T. (Iain), Hofstra, R.M.W. (Robert)

المصدر: Gastroenterology vol. 155 no. 1, pp. 118-129.e6

مصطلحات موضوعية: ENS, Family Study, Genetic Causes of HSCR, Neural Development

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/109208; urn:hdl:1765/109208

الاتاحة: http://repub.eur.nl/pub/109208
https://doi.org/10.1053/j.gastro.2018.03.034

المؤلفون: Gui, H. (Hongsheng), Schriemer, D. (Duco), Cheng, W.W. (William W.), Chauhan, R.K. (Rajendra), Antinolo, G., Berrios, C. (Courtney), Bleda, M. (Marta), Brooks, A.S. (Alice), Brouwer, R.W.W. (Rutger), Burns, A.J. (Alan), Cherny, S.S. (Stacey S.), Dopazo, J. (Joaquin), Eggen, B.J. (Bart), Griseri, P., Jalloh, B. (Binta), Le, T.-L. (Thuy-Linh), Lui, V.C.H. (Vincent), Luzón-Toro, B. (Berta), Matera, I. (Ivana), Ngan, E. (Elly), Pelet, A. (Anna), Ruiz-Ferrer, M. (Macarena), Sham, P.C. (Pak Chung), Shepherd, I.T. (Iain), So, M.-T. (Man-Ting), Sribudiani, Y. (Yunia), Tang, C.S.M. (Clara S.M.), van den hout, M.C.G.N. (Mirjam), Linde, H.C. (Herma) van der, Ham, T.J. (Tjakko) van, van IJcken, W.F.J. (Wilfred F.J.), Verheij, J.B. (Joke), Amiel, J. (Jeanne), Borrego, S. (Salud), Ceccherini, I. (Isabella), Chakravarti, A. (Aravinda), Lyonnet, S. (Stanislas), Tam, P.K.H. (Paul K.H.), Garcia-Barcelo, M., Hofstra, R.M.W. (Robert)

المصدر: Genome Biology vol. 18 no. 1

مصطلحات موضوعية: De novo mutations, ENS, Hirschsprung disease, Neural crest

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/98554; urn:hdl:1765/98554

الاتاحة: http://repub.eur.nl/pub/98554
https://doi.org/10.1186/s13059-017-1174-6

المؤلفون: Widowati, T. (Titis), Melhem, S. (Shamiram), Patria, S.Y. (Suryono Y), De Graaf, B.M. (Bianca M), Sinke, R.J. (Richard J), Viel, M. (Martijn), Dijkhuis, J. (Jos), Sadewa, A.H. (Ahmad H), Purwohardjono, R. (Rochadi), Soenarto, Y. (Yati), Hofstra, R.M.W. (Robert), Sribudiani, Y. (Yunia)

المصدر: European Journal of Human Genetics vol. 24 no. 6, pp. 823-829

Relation: http://repub.eur.nl/pub/88769; urn:hdl:1765/88769

الاتاحة: http://repub.eur.nl/pub/88769
https://doi.org/10.1038/ejhg.2015.214

المؤلفون: Werf, C.S. (Christine) van der, Hsiao, N.H. (Nai-Hua), Conroy, S. (Siobhan), Paredes, J. (Joana), Ribeiro, A.S. (Ana), Sribudiani, Y. (Yunia), Seruca, R. (Raquel), Hofstra, R.M.W. (Robert), Westers, H. (Helga), IJzendoorn, S.C.D. (Sven) van

المصدر: PLoS ONE vol. 8 no. 2

مصطلحات موضوعية: animal cell, article, cell adhesion, cell aggregation, cell maturation, cell migration, cell proliferation, cell viability, controlled study, epithelium cell, flow cytometry, human, human cell, intestine cell, missense mutation, nonhuman, organogenesis, plasmid, polymerase chain reaction, protein analysis, protein function, signal transduction

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/40862; urn:hdl:1765/40862

الاتاحة: http://repub.eur.nl/pub/40862
https://doi.org/10.1371/journal.pone.0054649