المؤلفون: Nuria Suárez-Herrera, Nico Leijsten, Silvia Albert, Nathalie M. Bax, Carel B. Hoyng, Frans P.M. Cremers, Alejandro Garanto, Rob W.J. Collin

المصدر: Stem Cell Research, Vol 73, Iss , Pp 103252- (2023)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1873506123002386Test; https://doaj.org/toc/1873-5061Test

الوصول الحر: https://doaj.org/article/d941c4a9899844418c163372794e5485Test

المؤلفون: Nuria Suárez-Herrera, Catherina H. Z. Li, Nico Leijsten, Dyah W. Karjosukarso, Zelia Corradi, Femke Bukkems, Lonneke Duijkers, Frans P. M. Cremers, Carel B. Hoyng, Alejandro Garanto, Rob W. J. Collin

المصدر: Cells, Vol 13, Iss 7, p 601 (2024)

مصطلحات موضوعية: N-of-1, antisense oligonucleotide, splicing modulation, pseudoexon, RNA therapy, ABCA4, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4409/13/7/601Test; https://doaj.org/toc/2073-4409Test

الوصول الحر: https://doaj.org/article/78195cd5174e462d99f4bd1b2718bd4eTest

المؤلفون: Dyah W. Karjosukarso, Femke Bukkems, Lonneke Duijkers, Nico Leijsten, Rob W.J. Collin

المصدر: Stem Cell Research, Vol 71, Iss , Pp 103169- (2023)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1873506123001551Test; https://doaj.org/toc/1873-5061Test

الوصول الحر: https://doaj.org/article/e893d5c039444c61a10507fd5fc3fe31Test

المؤلفون: Dyah W. Karjosukarso, Femke Bukkems, Lonneke Duijkers, Nico Leijsten, Carel B. Hoyng, Rob W.J. Collin

المصدر: Stem Cell Research, Vol 71, Iss , Pp 103164- (2023)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1873506123001502Test; https://doaj.org/toc/1873-5061Test

الوصول الحر: https://doaj.org/article/7bcda63f85d842a3848b791f4555db19Test

المؤلفون: Ana Julia da Cunha Leite, Irene Plaza Pinto, Nico Leijsten, Martina Ruiterkamp-Versteeg, Rolph Pfundt, Nicole de Leeuw, Aparecido Divino da Cruz, Lysa Bernardes Minasi

المصدر: PLoS ONE, Vol 17, Iss 4, p e0266493 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/1f458991ad8b4c6198934dafb8ddf06dTest

المؤلفون: Almira Zada, Farmaditya E. P. Mundhofir, Rolph Pfundt, Nico Leijsten, Willy Nillesen, Sultana M. H. Faradz, Nicole de Leeuw

المصدر: Case Reports in Genetics, Vol 2014 (2014)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2090-6544Test; https://doaj.org/toc/2090-6552Test

الوصول الحر: https://doaj.org/article/0163ba4678e74d62a4b59ec9eb76cb6cTest

المؤلفون: Bart P. G. H. van der Sanden, Gaby Schobers, Jordi Corominas Galbany, David A. Koolen, Margje Sinnema, Jeroen van Reeuwijk, Connie T. R. M. Stumpel, Tjitske Kleefstra, Bert B. A. de Vries, Martina Ruiterkamp-Versteeg, Nico Leijsten, Michael Kwint, Ronny Derks, Hilde Swinkels, Amber den Ouden, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Alexander P. Stegmann, Servi J. Stevens, Arthur van den Wijngaard, Han G. Brunner, Helger G. Yntema, Christian Gilissen, Marcel R. Nelen, Lisenka E. L. M. Vissers

المساهمون: MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, MUMC+: DA KG Lab Specialisten (9), MUMC+: DA Klinische Genetica (5)

المصدر: European Journal of Human Genetics, 31, 1, pp. 81-88
European Journal of Human Genetics, 31(1), 81-88. Nature Publishing Group
European Journal of Human Genetics, 31, 81-88

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Other Research Radboud Institute for Health Sciences [Radboudumc 0], Genetics, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Correlated Electron Systems / High Field Magnet Laboratory (HFML), Genetics (clinical), Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cbe9ba94a13c894fbcc6b704f44764bTest
https://repository.ubn.ru.nl/handle/2066/290609Test

المؤلفون: Willy M. Nillesen, Sultana M.H. Faradz, Rolph Pfundt, Farmaditya Ep Mundhofir, Almira Zada, Nico Leijsten, Nicole de Leeuw

المصدر: Case Reports in Genetics
Case Reports in Genetics, Vol 2014 (2014)
Case Reports in Genetics, 2014, pp. 530134
Case Reports in Genetics, 2014, 530134

مصطلحات موضوعية: Genetics, Microcephaly, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], lcsh:QH426-470, business.industry, Case Report, General Medicine, Low copy repeats, Carrier testing, Subtelomere, Bioinformatics, medicine.disease, lcsh:Genetics, Intellectual disability, Medicine, Multiplex ligation-dependent probe amplification, Allele, Neurodevelopmental disorders Radboud Institute for Molecular Life Sciences [Radboudumc 7], business, Genomic imprinting, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1bbfcbd08cd6bcdaa86b1685f28d617Test
https://doi.org/10.1155/2014/530134Test

المؤلفون: Maria Antonietta Mencarelli, Daniela Concolino, Michele Fimiani, Nico Leijsten, Fabio Macciardi, Rolph Pfundt, Lidia Larizza, Gaia Roversi, Eric F.P.M. Schoenmakers, Ludovica Volpi, Andrea Calabria, Elisa Colombo

المساهمون: Volpi, L, Roversi, G, Colombo, E, Leijsten, N, Concolino, D, Calabria, A, Mencarelli, M, Fimiani, M, Macciardi, F, Pfundt, R, Schoenmakers, E, Larizza, L

المصدر: American Journal of Human Genetics, 86, 72-6
American Journal of Human Genetics, 86, 1, pp. 72-6
The American Journal of Human Genetics; Vol 86

مصطلحات موضوعية: Male, DNA Mutational Analysis, medicine.disease_cause, 0302 clinical medicine, Genotype, Genetics(clinical), Rothmund–Thomson syndrome, Genetics (clinical), Genetics, Mutation, 0303 health sciences, Homozygote, Rothmund-Thomson Syndrome, Genomics, Pedigree, 3. Good health, 030220 oncology & carcinogenesis, Female, Erratum, Human, Heterozygote, Neutropenia, 030303 biophysics, Poikiloderma, Biology, Skin Diseases, Deep sequencing, DNA sequencing, Open Reading Frame, DNA Mutational Analysi, Genomic disorders and inherited multi-system disorders [IGMD 3], Diagnosis, Differential, Evolution, Molecular, Open Reading Frames, 03 medical and health sciences, Genetic linkage, Report, medicine, Humans, Abnormalities, Multiple, Gene, 030304 developmental biology, Skin Disease, Genodermatosis, Sequence Analysis, DNA, medicine.disease, Human genetics, Genomic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1b8b7a1ee0c4eedc67b6746fd1b8b61Test
https://europepmc.org/articles/PMC2933345Test/