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1دورية أكاديمية
المؤلفون: Laura J. C. M. van Zutven, Jona Mijalkovic, Monique van Veghel-Plandsoen, Margaret Goense, Marike Polak, Maarten F. C. M. Knapen, Sabina de Weerd, Marieke Joosten, Karin E. M. Diderich, Lies H. Hoefsloot, Diane Van Opstal, Malgorzata I. Srebniak
المصدر: Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-8 (2023)
مصطلحات موضوعية: Recurrent pregnancy loss, NIPT, Karyotyping, Balanced translocation, cfDNA, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8166Test
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2دورية أكاديمية
المؤلفون: Malgorzata Ilona Srebniak, Maarten F. C. M. Knapen, Marieke Joosten, Karin E. M. Diderich, Sander Galjaard, Diane Van Opstal
المصدر: Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-4 (2021)
مصطلحات موضوعية: NIPT, Fetal anomaly scan, First trimester, Prenatal screening, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8166Test
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3دورية أكاديمية
المؤلفون: Malgorzata I. Srebniak, Maarten F. C. M. Knapen, Lutgarde C. P. Govaerts, Marike Polak, Marieke Joosten, Karin E. M. Diderich, Laura J. C. M. van Zutven, Krista A. K. E. Prinsen, Sam Riedijk, Attie T. J. I. Go, Robert‐Jan H. Galjaard, Lies H. Hoefsloot, Diane Van Opstal
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
مصطلحات موضوعية: diagnostic yield, microarray, NIPT, patients preferences, prenatal diagnosis, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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4دورية أكاديمية
المؤلفون: Sam Riedijk, Karin E. M. Diderich, Sanne L. van der Steen, Lutgarde C. P. Govaerts, Marieke Joosten, Maarten F. C. M. Knapen, Femke A. T. de Vries, Diane van Opstal, Aad Tibben, Robert-Jan H. Galjaard
المصدر: Journal of Clinical Medicine, Vol 3, Iss 3, Pp 713-723 (2014)
مصطلحات موضوعية: prenatal diagnosis, SNP array analysis, counselling challenges, Medicine
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Diane Van Opstal, Malgorzata I Srebniak, Joke Polak, Femke de Vries, Lutgarde C P Govaerts, Marieke Joosten, Attie T J I Go, Maarten F C M Knapen, Cardi van den Berg, Karin E M Diderich, Robert-Jan H Galjaard
المصدر: PLoS ONE, Vol 11, Iss 1, p e0146794 (2016)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC4714811?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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6
المؤلفون: Jordy Dekker, Rachel Schot, Michiel Bongaerts, Walter G. de Valk, Monique M. van Veghel-Plandsoen, Kathryn Monfils, Hannie Douben, Peter Elfferich, Esmee Kasteleijn, Leontine M.A. van Unen, Geert Geeven, Jasper J. Saris, Yvette van Ierland, Frans W. Verheijen, Marianne L.T. van der Sterre, Farah Sadeghi Niaraki, Daphne J. Smits, Hidde H. Huidekoper, Monique Williams, Martina Wilke, Virginie J.M. Verhoeven, Marieke Joosten, Anneke J.A. Kievit, Ingrid M.B.H. van de Laar, Lies H. Hoefsloot, Marianne Hoogeveen-Westerveld, Mark Nellist, Grazia M.S. Mancini, Tjakko J. van Ham
المساهمون: Clinical Genetics, Erasmus MC other, Pediatrics, Emergency Medicine
المصدر: American Journal of Human Genetics, 110(2), 251-272. Cell Press
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77e91c5b19bb7b0e62a630a2aed65e87Test
https://doi.org/10.1016/j.ajhg.2022.12.015Test -
7
المؤلفون: Karin EM Diderich, Jasmijn E Klapwijk, Vyne van der Schoot, Hennie T Brüggenwirth, Marieke Joosten, Malgorzata I Srebniak
المساهمون: Clinical Genetics, Department of Psychology, Education and Child Studies, Emergency Medicine, Human genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: Application of Clinical Genetics, 16, 89-97. Dove Medical Press Ltd.
Diderich, K E M, Klapwijk, J E, van der Schoot, V, Brüggenwirth, H T, Joosten, M & Srebniak, M I 2023, ' Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing ', Application of Clinical Genetics, vol. 16, pp. 89-97 . https://doi.org/10.2147/TACG.S411185Testمصطلحات موضوعية: The Application of Clinical Genetics, Genetics, Genetics (clinical)
وصف الملف: application/pdf; text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b502c0b657e9ec63ddb24277ef76ef1Test
https://pure.eur.nl/en/publications/98cb4be3-582a-4608-b9da-8e591fa1f537Test -
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المؤلفون: Pleuntje J. van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Christele Dubourg, Mélanie Fradin, Tianyun Wang, Evangeline C. Kurtz-Nelson, Kaitlyn P. Ahlers, Peer Arts, Christopher P. Barnett, Myla Ashfaq, Anwar Baban, Myrthe van den Born, Sarah Borrie, Tiffany Busa, Alicia Byrne, Miriam Carriero, Claudia Cesario, Karen Chong, Anna Maria Cueto-González, Jennifer C. Dempsey, Karin E.M. Diderich, Dan Doherty, Stense Farholt, Erica H. Gerkes, Svetlana Gorokhova, Lutgarde C.P. Govaerts, Pernille A. Gregersen, Scott E. Hickey, Mathilde Lefebvre, Francesca Mari, Jelena Martinovic, Hope Northrup, Melanie O’Leary, Kareesma Parbhoo, Sophie Patrier, Bernt Popp, Fernando Santos-Simarro, Corinna Stoltenburg, Christel Thauvin-Robinet, Elisabeth Thompson, Anneke T. Vulto-van Silfhout, Farah R. Zahir, Hamish S. Scott, Rachel K. Earl, Evan E. Eichler, Neeta L. Vora, Yael Wilnai, Jessica L. Giordano, Ronald J. Wapner, Jill A. Rosenfeld, Monique C. Haak, Gijs W.E. Santen
المساهمون: Leiden University Medical Center (LUMC), Universiteit Leiden, Erasmus University Medical Center [Rotterdam] (Erasmus MC), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], Hôpital de la Timone [CHU - APHM] (TIMONE), 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), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), CHU Rouen, Normandie Université (NU), Columbia University Medical Center (CUMC), Columbia University [New York], Baylor College of Medicine (BCM), Baylor University, This work was supported, in part, by grants from the National Institutes of Health (Grant No. R01 MH101221 [to E.E.E.]). E.E.E. is an investigator of the Howard Hughes Medical Institute.Sequencing and analysis for individual 30 was provided by the Broad Institute of MIT and Harvard Center for Mendelian Genomics and was funded by the National Human Genome Research Institute, the National Eye Institute, and the National Heart, Lung, and Blood Institute (Grant Nos. UM1 HG008900 and R01 HG009141).Sequencing and analysis of cases 5 and 18 was funded by the National Institute of Child Human Development (Grant Nos. K23 HD088742 and R01 HD105868 [to N.L.V.])., Emergency Medicine, Clinical Genetics, van der Sluijs, Pleuntje J, Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Arts, Peer, Byrne, Alicia, Scott, Hamish S, Santen, Gijs WE
المصدر: van der Sluijs, P J, Joosten, M, Alby, C, Attié-Bitach, T, Gilmore, K, Dubourg, C, Fradin, M, Wang, T, Kurtz-Nelson, E C, Ahlers, K P, Arts, P, Barnett, C P, Ashfaq, M, Baban, A, van den Born, M, Borrie, S, Busa, T, Byrne, A, Carriero, M, Cesario, C, Chong, K, Cueto-González, A M, Dempsey, J C, Diderich, K E M, Doherty, D, Farholt, S, Gerkes, E H, Gorokhova, S, Govaerts, L C P, Gregersen, P A, Hickey, S E, Lefebvre, M, Mari, F, Martinovic, J, Northrup, H, O'Leary, M, Parbhoo, K, Patrier, S, Popp, B, Santos-Simarro, F, Stoltenburg, C, Thauvin-Robinet, C, Thompson, E, Vulto-van Silfhout, A T, Zahir, F R, Scott, H S, Earl, R K, Eichler, E E, Vora, N L, Wilnai, Y, Giordano, J L, Wapner, R J, Rosenfeld, J A, Haak, M C & Santen, G W E 2022, ' Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort ', Genetics in Medicine, vol. 24, no. 8, pp. 1753-1760 . https://doi.org/10.1016/j.gim.2022.04.010Test
Genetics in Medicine, 24, 1753-1760
Genetics in Medicine, 24, 8, pp. 1753-1760
Genetics in Medicine
Genetics in Medicine, 2022, 24 (8), pp.1753-1760. ⟨10.1016/j.gim.2022.04.010⟩
Genet Med
Genetics in Medicine, 24(8), 1753-1760. Lippincott Williams & Wilkins
Genetics in Medicine, 24(8), 1753-1760. Nature Publishing Group
Genetics in Medicine, 24(8), 1753-1760. ELSEVIER SCIENCE INCمصطلحات موضوعية: prenatal, genetic association, Chromosomal Proteins, Non-Histone, Micrognathism, SMARCB1, genetic vulnerability, Article, Fetal, SMARCA4, Intellectual Disability, Humans, Coffin-Siris syndrome, Abnormalities, Multiple, Genetic Association Studies, Genetics (clinical), Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], BAF-complex, SMARCB, ARID1A, ARID1B BAFopathy, Phenotype, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Face, abnormalities, Hand Deformities, Congenital, Neck
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::302232c268a34e8154eb121a3a262accTest
http://www.scopus.com/inward/record.url?scp=85130377668&partnerID=8YFLogxKTest -
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المؤلفون: Juanita A. Haagsma, Björn Dijkstra, A. J. L. M. Geraerds, Daphne van Rijssel, Amber E. Hoek, Marieke Joosten, Dafni Papathanasiou, Stephanie C. E. Schuit, Diederik W.J. Dippel, Pleunie P.M. Rood, Leandra van den Hengel, Suzanne Polinder, Alex Burdorf, Maaike van den Hamer, Ed F. van Beeck
المساهمون: Emergency Medicine, Public Health, Neurology, Internal Medicine
المصدر: Journal of Head Trauma Rehabilitation, 37(4), E231-E241. Lippincott Williams & Wilkins
مصطلحات موضوعية: Adult, medicine.medical_specialty, business.industry, Traumatic brain injury, Post-Concussion Syndrome, Rehabilitation, Head injury, Physical Therapy, Sports Therapy and Rehabilitation, Health Care Costs, medicine.disease, Patient Discharge, Intervention (counseling), Health care, Cohort, Physical therapy, Medicine, Humans, Neurology (clinical), business, Discharge instructions, Emergency Service, Hospital, Productivity, Medical costs, Brain Concussion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa98d04ff8cd4fff01d62de3e6fafa3fTest
http://www.scopus.com/inward/record.url?scp=85113145830&partnerID=8YFLogxKTest -
10
المؤلفون: Verena Klämbt, Florian Buerger, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth, Anna-Carina Weiss, Tobias Sieckmann, Ethan Lai, Dervla M. Connaughton, Steve Seltzsam, Nina Mann, Amar J. Majmundar, Chen-Han W. Wu, Ana C. Onuchic-Whitford, Shirlee Shril, Sophia Schneider, Luca Schierbaum, Rufeng Dai, Mir Reza Bekheirnia, Marieke Joosten, Omer Shlomovitz, Asaf Vivante, Ehud Banne, Shrikant Mane, Richard P. Lifton, Karin M. Kirschner, Andreas Kispert, Georg Rosenberger, Klaus-Dieter Fischer, Soeren S. Lienkamp, Mirjam M.P. Zegers, Friedhelm Hildebrandt
المصدر: Journal of the American Society of Nephrology, 34, 2, pp. 273-290
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
Journal of the American Society of Nephrology, 34, 273-290مصطلحات موضوعية: urinary tract, ALPHA-PIX, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], MUTATIONS, Biology and Life Sciences, General Medicine, monogenic kidney disease, REGULATES BRANCHING MORPHOGENESIS, SEQUENCE, pediatric, All institutes and research themes of the Radboud University Medical Center, Nephrology, NUCLEOTIDE EXCHANGE FACTORS, EXTRACELLULAR-MATRIX, INBRED MOUSE, INTEGRIN-LINKED KINASE, PROTEIN NEPHRONECTIN, MDCK CELL-CULTURE, development, CAKUT
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4439761a65e0ca2ac0685948bb12003Test
https://repository.ubn.ru.nl/handle/2066/290858Test