المؤلفون: Fleger, M, Willomitzer, J, Meinsma, R, Alders, M, Meijer, J, Hennekam, R C M, Huemer, Martina, van Kuilenburg, A B P

المصدر: Fleger, M; Willomitzer, J; Meinsma, R; Alders, M; Meijer, J; Hennekam, R C M; Huemer, Martina; van Kuilenburg, A B P (2017). Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype? JIMD Reports, (37):49-54.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/145723/1/Zora.pdfTest; info:pmid/28275972; urn:issn:2192-8304

الإتاحة: https://doi.org/10.5167/uzh-14572310.1007/8904_2017_14Test
https://www.zora.uzh.ch/id/eprint/145723Test/
https://www.zora.uzh.ch/id/eprint/145723/1/Zora.pdfTest

المؤلفون: Mattioli, F. (Francesca), Schaefer, E. (Elise), Magee, A. (Alex), Mark, P. (Paul), Mancini, G.M.S. (Grazia), Dieterich, K. (Klaus), Von Allmen, G. (Gretchen), Alders, M. (Marielle), Coutton, C. (Charles), Slegtenhorst, M.A. (Marjon) van, Vieville, G. (Gaëlle), Engelen, M. (Mark), Cobben, J.M. (Jan Maarten), Juusola, J. (Jane), Pujol, A. (Aurora), Mandel, J.-L. (Jean-Louis), Piton, A. (Amélie)

المصدر: American Journal of Human Genetics vol. 100 no. 1, pp. 105-116

العلاقة: http://repub.eur.nl/pub/95205Test; urn:hdl:1765/95205

الإتاحة: https://doi.org/10.1016/j.ajhg.2016.11.010Test
http://repub.eur.nl/pub/95205Test

المؤلفون: Oud, MM, Tuijnenburg, P, Hempel, M, van Vlies, N, Ren, Z, Ferdinandusse, S, Jansen, MH, Santer, R, Johannsen, J, Bacchelli, C, Alders, M, Li, R, Davies, R, Dupuis, L, Cale, CM, Wanders, RJ, Pals, ST, Ocaka, L, James, C, Müller, I, Lehmberg, K, Strom, T, Engels, H, Williams, HJ, Beales, P, Roepman, R, Dias, P, Brunner, HG, Cobben, JM, Hall, C, Hartley, T, Le Quesne Stabej, P, Mendoza-Londono, R, Davies, EG, de Sousa, SB, Lessel, D, Arts, HH, Kuijpers, TW

المصدر: American Journal of Human Genetics , 100 (2) pp. 281-296. (2017)

مصطلحات موضوعية: EXTL3, T cell SCID, exostosin, heparan sulfate, neuro-immuno-skeletal dysplasia

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1541039/1/Williams_EXTL3_Manuscript.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1541039Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1541039/1/Williams_EXTL3_Manuscript.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1541039Test/

المؤلفون: Sollis, E., Deriziotis, P., Saitsu, H., Miyake, N., Matsumoto, N., J.V.Hoffer, M., Ruivenkamp, C., Alders, M., Okamoto, N., Bijlsma, E., Plomp, A., Fisher, S.

المصدر: Human Mutation

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/11858/00-001M-0000-002D-A60C-5Test; http://hdl.handle.net/11858/00-001M-0000-002D-A60F-0Test; http://hdl.handle.net/11858/00-001M-0000-002E-1778-2Test

الإتاحة: https://doi.org/10.1002/humu.23303Test
http://hdl.handle.net/11858/00-001M-0000-002D-A60C-5Test
http://hdl.handle.net/11858/00-001M-0000-002D-A60F-0Test
http://hdl.handle.net/11858/00-001M-0000-002E-1778-2Test

المؤلفون: Adadi, N., Lahrouchi, N., Bouhouch, R., Fellat, I., Amri, R., Alders, M., Sefiani, A., Bezzina, C., Ratbi, I.

المصدر: Journal of Medical Case Reports ; volume 11, issue 1 ; ISSN 1752-1947

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1186/s13256-017-1243-1Test

المؤلفون: Wortmann, S.B., Oud, M.M., Alders, M., Coene, K.L.M., Crabben, S.N. van der, Feichtinger, R.G., Garanto, A., Hoischen, A., Langeveld, M., Lefeber, D.J., Mayr, J.A., Ockeloen, C.W., Prokisch, H., Rodenburg, R.J., Waterham, H.R., Wevers, R.A., Warrenburg, B.P.C. van de, Willemsen, M.A.A.P., Wolf, N.I., Vissers, L.E.L.M., Karnebeek, C.D. van

المصدر: Journal of Inherited Metabolic Disease, 45, 4, pp. 663-681

مصطلحات موضوعية: Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 4: lnfectious Diseases and Global Health RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/282561/282561.pdfTest; https://repository.ubn.ru.nl/handle/2066/282561Test

الإتاحة: https://doi.org/10.1002/jimd.12507Test
https://repository.ubn.ru.nl//bitstream/handle/2066/282561/282561.pdfTest
https://repository.ubn.ru.nl/handle/2066/282561Test

المؤلفون: Laan, L. van der, Rooney, K., Alders, M., Relator, Raissa, McConkey, H., Kerkhof, J., Vissers, L.E.L.M., Haelst, M. van, Henneman, Peter

المصدر: International Journal of Molecular Sciences, 23, 22

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/285922/285922.pdfTest; https://repository.ubn.ru.nl/handle/2066/285922Test

الإتاحة: https://doi.org/10.3390/ijms232213664Test
https://repository.ubn.ru.nl//bitstream/handle/2066/285922/285922.pdfTest
https://repository.ubn.ru.nl/handle/2066/285922Test

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, L.M., Semina, E.V., Lachlan, K., Chandler, K., Wright, T., Clayton-Smith, J., Hug, F.P., Pitteloud, N., Bartoloni, L., Hoffjan, S., Park, S.M., Thankamony, A., Lees, M., Wakeling, E., Naik, S., Hanker, B., Girisha, K.M., 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.

المساهمون: University of Washington Centre for Mendelian Genomics (UW-CMG), Genomics England Research Consortium, Nickerson, D., Bamshad, M., Leal, S., Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Elgar, G., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, TJP, Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, SEA, Leong, IUS, Lopez, J.F., Maleady-Crowe, F., McEntagart, M., Minneci, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O'Donovan, P., Odhams, C.A., Patch, C., Pereira, M.B., Perez-Gil, D., Pullinger, J., Rahim, T., Rendon, A., Rogers, T, Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A.L., Thomas, ERA, Thompson, S.R., Tucci, A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M.

المصدر: Genetics in medicine, vol. 24, no. 6, pp. 1261-1273

مصطلحات موضوعية: DNA Methylation/genetics, Humans, Hypogonadism/genetics, Klinefelter Syndrome/genetics, Neurodevelopmental Disorders/genetics, Phenotype, SOXC Transcription Factors/genetics, Exome Sequencing, Exome, Genome sequencing, Hypogonadism, Methylation, Neurodevelopmental disorder, SOX11

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35341651; info:eu-repo/semantics/altIdentifier/eissn/1530-0366; https://serval.unil.ch/notice/serval:BIB_FD0B4538B921Test; urn:issn:1098-3600

الإتاحة: https://doi.org/10.1016/j.gim.2022.02.013Test
https://serval.unil.ch/notice/serval:BIB_FD0B4538B921Test

المؤلفون: Levy, M.A., Beck, D.B., Metcalfe, K., Douzgou, S., Sithambaram, S., Cottrell, T., Ansar, M., Kerkhof, J., Mignot, C., Nougues, M.C., Keren, B., Moore, H.W., Oegema, R., Giltay, J.C., Simon, M., Jaarsveld, R.H. van, Bos, J., Haelst, M. van, Motazacker, M.M., Boon, E.M.J., Santen, G.W.E., Ruivenkamp, C.A.L., Alders, M., Luperchio, T.R., Boukas, L., Ramsey, K., Narayanan, V., Schaefer, G.B., Bonasio, R., Doheny, K.F., Stevenson, R.E., Banka, S., Sadikovic, B., Fahrner, J.A.

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::102aaccfc9e0e30c236824fffdae6a2dTest
https://hdl.handle.net/1887/3276857Test

المؤلفون: Matthijs, G., Souche, E., Alders, M., Corveleyn, A., Eck, S., Feenstra, I., Race, V., Sistermans, E., Sturm, M., Weiss, M., Yntema, Helger G., Bakker, E., Scheffer, H., Bauer, Peter

المصدر: Matthijs , G , Souche , E , Alders , M , Corveleyn , A , Eck , S , Feenstra , I , Race , V , Sistermans , E , Sturm , M , Weiss , M , Yntema , H G , Bakker , E , Scheffer , H & Bauer , P 2016 , ' Guidelines for diagnostic next-generation sequencing ' , European Journal of Human Genetics , vol. 24 , pp. 2-5 . https://doi.org/10.1038/ejhg.2015.226Test

العلاقة: https://research.vumc.nl/en/publications/73faaf6f-8b00-4ee5-a39b-d32ba39f5c52Test

الإتاحة: https://doi.org/10.1038/ejhg.2015.226Test
https://research.vumc.nl/en/publications/73faaf6f-8b00-4ee5-a39b-d32ba39f5c52Test