المؤلفون: Florence Belva, Fiskani Kondowe, Anick De Vos, Kathelijn Keymolen, Andrea Buysse, Frederik Hes, Veerle Berckmoes, Pieter Verdyck, Willem Verpoest, Martine De Rycke

المصدر: Reproductive Biology and Endocrinology, Vol 21, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Embryo biopsy, Health, Children, Cleavage, Blastocyst, PGT, Gynecology and obstetrics, RG1-991, Reproduction, QH471-489

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1477-7827Test

الوصول الحر: https://doaj.org/article/d16cbf879c3c4e5bad1d41107d163935Test

المؤلفون: Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck, Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, Sandra Janssens, Stèphanie Moorgat, Bettina Blaumeiser, Kristiina Avela, Renaud Touraine, Imad Abou Jaoude, Kathelijn Keymolen, Pascale Saugier-Veber, Tom Lenaerts, Marc Abramowicz, Isabelle Pirson

المصدر: Human Genomics, Vol 17, Iss 1, Pp 1-14 (2023)

مصطلحات موضوعية: Congenital hydrocephalus, Oligogenic inheritance, Exome sequencing, Mutation burden test, Cilia, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1479-7364Test

الوصول الحر: https://doaj.org/article/44a6fec88d5c445daba53c4728eddc7aTest

المؤلفون: Claire Balza, Giulia Garofalo, Teresa Cos, Julie Désir, Xin Kang, Kathelijn Keymolen, Julie Soblet, Kim Van Berkel, Catheline Vilain, Wafa Ben Abbou, Marie Cassart

المصدر: Clinical Case Reports, Vol 9, Iss 12, Pp n/a-n/a (2021)

مصطلحات موضوعية: cerebellar hypoplasia, lissencephaly, reelinopathy, RELN, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-0904Test

الوصول الحر: https://doaj.org/article/c7092051c69f455cac8f7810c200e5ebTest

المؤلفون: Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, Winnie Courtens, François‐Guillaume Debray, Anne Destree, Koenraad Devriendt, Anna Jansen, Kathelijn Keymolen, Damien Lederer, Bart Loeys, Marije Meuwissen, Stéphanie Moortgat, Geert Mortier, Marie‐Cécile Nassogne, Tayeb Sekhara, Rudy Van Coster, Jenny Van Den Ende, Nathalie Van der Aa, Hilde Van Esch, Olivier Vanakker, Helene Verhelst, Catheline Vilain, Sarah Weckhuysen, Sandrine Passemard, Alain Verloes, Alec Aeby, Nicolas Deconinck, Patrick Van Bogaert, Isabelle Pirson, Marc Abramowicz

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)

مصطلحات موضوعية: brain developmental disorders, consanguinity, epilepsy, Mendeliome, primary microcephaly, rare disease, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/7feac2e044344c5c91673d23c2f81236Test

المؤلفون: Anne-Marie Vanbinst, Carola Brussaard, Evelynn Vergauwen, Vera Van Velthoven, Robert Kuijpers, Olaf Michel, Ina Foulon, Anna C. Jansen, Bieke Lefevere, Susanne Bohler, Kathelijn Keymolen, Johan de Mey, Dirk Michielsen, Corina E. Andreescu, Sven Gläsker

المصدر: Hereditary Cancer in Clinical Practice, Vol 17, Iss 1, Pp 1-6 (2019)

مصطلحات موضوعية: von Hippel-Lindau disease, Gadolinium, Hereditary cancer, Preventive medicine, MRI screening, Whole body MRI, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13053-019-0121-9Test; https://doaj.org/toc/1897-4287Test

الوصول الحر: https://doaj.org/article/b4879a4de36d4ca3ab67af4e3292f1cbTest

المؤلفون: Evelynn Vergauwen, Anne-Marie Vanbinst, Carola Brussaard, Peter Janssens, Dieter De Clerck, Michel Van Lint, Anne C. Houtman, Olaf Michel, Kathelijn Keymolen, Bieke Lefevere, Susanne Bohler, Dirk Michielsen, Anna C. Jansen, Vera Van Velthoven, Sven Gläsker

المصدر: Hereditary Cancer in Clinical Practice, Vol 16, Iss 1, Pp 1-9 (2018)

مصطلحات موضوعية: Von Hippel-Lindau disease, Tuberous Sclerosis Complex, Gadolinium accumulation, MRI screening, Familial tumor syndromes, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13053-017-0084-7Test; https://doaj.org/toc/1897-4287Test

الوصول الحر: https://doaj.org/article/2b166d78134048589910c4a810875367Test

المؤلفون: Robert Hilbrands, Kathelijn Keymolen, Alex Michotte, Miriam Marichal, Filip Cools, Anieta Goossens, Peter In’t Veld, Jean De Schepper, Andrew Hattersley, Harry Heimberg

المصدر: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-5 (2017)

مصطلحات موضوعية: Premanent neonatal diabetes mellitus, Pancreas agenesis, Holoprosencephaly, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12881-017-0419-2Test; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/72e8bc1cb46346d1a9e49df337a4f3e0Test

المؤلفون: Stefanie Brock, Annie Laquerriere, Florent Marguet, Scott J Myers, Yuan Hongjie, Diana Baralle, Tim Vanderhasselt, Katrien Stouffs, Kathelijn Keymolen, Sukhan Kim, James Allen, Gil Shaulsky, Jamel Chelly, Pascale Marcorelle, Jacqueline Aziza, Laurent Villard, Elise Sacaze, Marie C Y de Wit, Martina Wilke, Grazia Maria Simonetta Mancini, Ute Hehr, Derek Lim, Sahar Mansour, Stephen F Traynelis, Claire Beneteau, Marie Denis-Musquer, Anna C Jansen, Andrew E Fry, Nadia Bahi-Buisson

المساهمون: Neurology, Clinical Genetics, Internal Medicine, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Journal of medical genetics
Journal of Medical Genetics, 60(2), 183-192. BMJ Publishing Group
Journal of Medical Genetics
Journal of Medical Genetics, 2022, pp.jmedgenet-2021-107971. ⟨10.1136/jmedgenet-2021-107971⟩

مصطلحات موضوعية: NMDAR, [SDV.GEN]Life Sciences [q-bio]/Genetics, nervous system, GRIN1, [SDV]Life Sciences [q-bio], Genetics, polymicrogyria, Human medicine, malformations of cortical development, GRIN2B, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Genetics (clinical)

وصف الملف: application/pdf; text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6df8d21797352c70b1f96c5314f0ab4Test
http://www.scopus.com/inward/record.url?scp=85128529767&partnerID=8YFLogxKTest

المؤلفون: Ileen Slegers, Kathelijn Keymolen, Kim Van Berkel, Boyan Dimitrov, Sonia Van Dooren, Rani Cooreman, Frederik Hes, Maaike Fobelets

المصدر: European Journal of Human Genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5addb1d13439136f54fb1b7cf5a15be2Test
https://doi.org/10.1038/s41431-023-01375-zTest

المؤلفون: ileen slegers, Kathelijn Keymolen, Van Berkel Kim, Boyan Dimitrov, Sonia Van Dooren, Rani Cooreman, Frederik Hes, Maaike Fobelets

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fba2a7400b17e55fc5e2423ec84ea06aTest
https://doi.org/10.21203/rs.3.rs-2006200/v1Test