المؤلفون: Elke de Boer, Carlo Marcelis, Kornelia Neveling, Ellen van Beusekom, Alexander Hoischen, Willemijn M. Klein, Nicole de Leeuw, Tuomo Mantere, Uirá S. Melo, Jeroen van Reeuwijk, Dominique Smeets, Malte Spielmann, Tjitske Kleefstra, Hans van Bokhoven, Lisenka E.L.M. Vissers

المصدر: HGG Advances, Vol 4, Iss 3, Pp 100200- (2023)

مصطلحات موضوعية: SOX3, X-linked split-hand/foot malformation, SHFM2, Structural variation, Whole genome sequencing, Optical genome mapping, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247723000325Test; https://doaj.org/toc/2666-2477Test

الوصول الحر: https://doaj.org/article/80aa8b4ab3904f01ad8c5057d0e546e2Test

المؤلفون: Yahya Benbouchta, Nicole De Leeuw, Saadia Amasdl, Aziza Sbiti, Dominique Smeets, Khalid Sadki, Abdelaziz Sefiani

المصدر: Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: 15q26 deletion, CHD, Array-CGH, Case report, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1824-7288Test

الوصول الحر: https://doaj.org/article/5c796aaa3d7a4ab982bd4678fa3921b3Test

المؤلفون: Maria V. Luna‐Velez, Jelmer J. Dijkstra, Marina A. Heuschkel, Frank P. Smit, Guillaume van de Zande, Dominique Smeets, J. P. Michiel Sedelaar, Michiel Vermeulen, Gerald W. Verhaegh, Jack A. Schalken

المصدر: Molecular Oncology, Vol 15, Iss 7, Pp 1882-1900 (2021)

مصطلحات موضوعية: androgen deprivation therapy, androgen receptor, cell migration, colony formation, transcriptome analysis, urothelial cell carcinoma, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1574-7891Test; https://doaj.org/toc/1878-0261Test

الوصول الحر: https://doaj.org/article/232b1f170c384ea19e66163c0f81904fTest

المؤلفون: Ronald Peek, Sapthami Nadesapillai, Thu Yen Thi Nguyen, Sarah Vassart, Dominique Smeets, Guillaume van de Zande, Alessandra Camboni, Didi Braat, Janielle van der Velden, Jacques Donnez, Kathrin Fleischer, Marie-Madeleine Dolmans

المساهمون: UCL - SSS/IREC/GYNE - Pôle de Gynécologie

المصدر: Fertility and Sterility, (2023)

مصطلحات موضوعية: History, Polymers and Plastics, Reproductive Medicine, Obstetrics and Gynecology, Business and International Management, Industrial and Manufacturing Engineering

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69a6f9fab934b46506481d536f932341Test
https://doi.org/10.1016/j.fertnstert.2023.04.008Test

المؤلفون: J.P. Michiel Sedelaar, Gerald W. Verhaegh, Michiel Vermeulen, Dominique Smeets, Marina A. Heuschkel, Maria V. Luna-Velez, Jelmer J. Dijkstra, Frank Smit, Jack A. Schalken, Guillaume van de Zande

المصدر: Molecular Oncology, 15, 7, pp. 1882-1900
Molecular Oncology, Vol 15, Iss 7, Pp 1882-1900 (2021)
Molecular Oncology, 15, 1882-1900
Molecular Oncology

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, cell migration, medicine.drug_class, Urinary Bladder, androgen deprivation therapy, Biology, colony formation, Bladder Urothelial Cell, Transcriptome, Androgen deprivation therapy, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, transcriptome analysis, Cell Line, Tumor, androgen receptor, Urological cancers Radboud Institute for Molecular Life Sciences [Radboudumc 15], Genetics, medicine, Humans, Enzalutamide, Clonogenic assay, Molecular Biology, Research Articles, RC254-282, Carcinoma, Transitional Cell, Bladder cancer, Proteomics and Chromatin Biology, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Neoplasms. Tumors. Oncology. Including cancer and carcinogens, General Medicine, Androgen, medicine.disease, Androgen receptor, 030104 developmental biology, Urinary Bladder Neoplasms, Oncology, chemistry, Receptors, Androgen, urothelial cell carcinoma, 030220 oncology & carcinogenesis, Cancer research, Molecular Medicine, Female, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a234ff5fe2c0dc53800c5fa4d553996Test
https://hdl.handle.net/2066/237636Test

المؤلفون: Maurike de Groot-van der Mooren, Gert de Graaf, Michel E. Weijerman, Mariette J.V. Hoffer, J (Jeroen) Knijnenburg, Anne Marie M.F. van der Kevie-Kersemaekers, Angelique J.A. Kooper, Els Voorhoeve, Birgit Sikkema-Raddatz, L.J.C.M. (Laura) van Zutven, M.I. (Gosia) Srebniak, Karin Huijsdens-van Amsterdam, John J.M. Engelen, Dominique Smeets, Anton H. Van Kaam, Martina C. Cornel

المصدر: Prenatal Diagnosis vol. 41 no. 10, pp. 1351-1359

العلاقة: https://repub.eur.nl/pub/136704Test; urn:hdl:1765/136704

الإتاحة: https://doi.org/10.1002/pd.6003Test
https://repub.eur.nl/pub/136704Test

المؤلفون: Ronald van Beek, Caroline Schluth-Bolard, Jean Michel Dupont, Tuomo Mantere, Michiel Oorsprong, Alexander Hoischen, Marc Pauper, Dominique Smeets, Kornelia Neveling, Laila El Khattabi, Céline Pebrel-Richard, Marion Benoist, Marian Stevens-Kroef, Aziza Lebbar, Tony Yammine, Imane Baatout, Faten Hsoumi, Guillaume van der Zande, Damien Sanlaville, Ellen Kater-Baats, Daniel Olde-Weghuis, Wed Majdali, Susan Vermeulen

المصدر: American Journal of Human Genetics, 108, 8, pp. 1409-1422
Am J Hum Genet
American Journal of Human Genetics, 108, 1409-1422

مصطلحات موضوعية: medicine.medical_specialty, DNA Copy Number Variations, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], Ring chromosome, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Chromosome Disorders, Computational biology, Biology, Article, All institutes and research themes of the Radboud University Medical Center, Gene mapping, Genetics, medicine, Humans, Copy-number variation, Genetics (clinical), Chromosome Aberrations, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genome, Human, Breakpoint, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Cytogenetics, Chromosome Mapping, Karyotype, Microarray Analysis, Karyotyping, Cytogenetic Analysis, Human genome, DNA microarray

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d61049c35b3e99e012cc69e4f06a0f35Test
https://repository.ubn.ru.nl/handle/2066/236917Test

المؤلفون: Janiëlle A E M van Alfen-van der Velden, Sapthami Nadesapillai, Didi D.M. Braat, Guillaume van de Zande, Kathrin Fleischer, Ron Peek, Dominique Smeets

المصدر: Fertility and Sterility, 115, 1280-1287
Fertility and Sterility, 115, 5, pp. 1280-1287

مصطلحات موضوعية: 0301 basic medicine, Stromal cell, Adolescent, Ovarian Cortex, Ovariectomy, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Karyotype, Turner Syndrome, Ovary, Biology, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], Andrology, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Ovarian Follicle, Follicular phase, Turner syndrome, medicine, Humans, Netherlands, Cryopreservation, 030219 obstetrics & reproductive medicine, Membrana granulosa, medicine.diagnostic_test, Mosaicism, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Fertility Preservation, Obstetrics and Gynecology, medicine.disease, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Fertility, 030104 developmental biology, medicine.anatomical_structure, Reproductive Medicine, Female, Fluorescence in situ hybridization

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d35b06fed382cc6812682c9f18a1c5bTest
https://doi.org/10.1016/j.fertnstert.2020.11.006Test

المؤلفون: Marian Stevens-Kroef, Susan Vermeulen, Ellen Kater-Baats, Guillaume van der Zande, Michiel Oorsprong, Tuomo Mantere, Dominique Smeets, Kornelia Neveling, Marc Pauper, Daniel Olde Weghuis, Alexander Hoischen, Ronald van Beek

المصدر: American Journal of Human Genetics, 108, 8, pp. 1423-1435
Am J Hum Genet
American Journal of Human Genetics, 108, 1423-1435

مصطلحات موضوعية: medicine.medical_specialty, DNA Copy Number Variations, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], Concordance, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Computational biology, Biology, Genome, Article, All institutes and research themes of the Radboud University Medical Center, Gene mapping, Genetics, medicine, Humans, Genetics (clinical), Chromosome Aberrations, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genome, Human, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Cytogenetics, Chromosome Mapping, Karyotype, Microarray Analysis, Hematological malignancy, Hematologic Neoplasms, Karyotyping, Cytogenetic Analysis, Cancer development, DNA microarray

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14d6de5b18c4305f347335ecc28c81feTest
https://doi.org/10.1016/j.ajhg.2021.06.001Test

المؤلفون: Nicole de Leeuw, Aziza Sbiti, Saadia Amasdl, Dominique Smeets, Khalid Sadki, Yahya Benbouchta, Abdelaziz Sefiani

المصدر: Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-8 (2021)
Italian Journal of Pediatrics, 47, 1
Italian Journal of Pediatrics, 47

مصطلحات موضوعية: Heart Defects, Congenital, Pediatrics, medicine.medical_specialty, Microcephaly, Monosomy, Clinodactyly, Array-CGH, Case Report, Atrial septal defects, RJ1-570, Consanguinity, Intellectual Disability, Intellectual disability, medicine, Humans, Hypertelorism, Growth Disorders, Chromosomes, Human, Pair 15, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, 15q26 deletion, medicine.disease, Failure to Thrive, medicine.anatomical_structure, CHD, Child, Preschool, Failure to thrive, Female, Eyelid, medicine.symptom, Chromosome Deletion, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc4d68d2869db947bffbc2cc5856ef1aTest
https://doi.org/10.21203/rs.3.rs-34129/v2Test