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1دورية أكاديمية
المؤلفون: Alexander J. M. Dingemans, Kim M. G. Truijen, Sam van de Ven, Raphael Bernier, Ernie M. H. F. Bongers, Arjan Bouman, Laura de Graaff – Herder, Evan E. Eichler, Erica H. Gerkes, Christa M. De Geus, Johanna M. van Hagen, Philip R. Jansen, Jennifer Kerkhof, Anneke J. A. Kievit, Tjitske Kleefstra, Saskia M. Maas, Stella A. de Man, Haley McConkey, Wesley G. Patterson, Amy T. Dobson, Eloise J. Prijoles, Bekim Sadikovic, Raissa Relator, Roger E. Stevenson, Connie T. R. M. Stumpel, Malou Heijligers, Kyra E. Stuurman, Katharina Löhner, Shimriet Zeidler, Jennifer A. Lee, Amanda Lindy, Fanggeng Zou, Matthew L. Tedder, Lisenka E. L. M. Vissers, Bert B. A. de Vries
المصدر: Translational Psychiatry, Vol 12, Iss 1, Pp 1-11 (2022)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2158-3188
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2دورية أكاديمية
المؤلفون: Pleuntje J. van der Sluijs, Mariëlle Alders, Alexander J. M. Dingemans, Kareesma Parbhoo, Bregje W. van Bon, Jennifer C. Dempsey, Dan Doherty, Johan T. den Dunnen, Erica H. Gerkes, Ilana M. Milller, Stephanie Moortgat, Debra S. Regier, Claudia A. L. Ruivenkamp, Betsy Schmalz, Thomas Smol, Kyra E. Stuurman, Catherine Vincent-Delorme, Bert B. A. de Vries, Bekim Sadikovic, Scott E. Hickey, Jill A. Rosenfeld, Isabelle Maystadt, Gijs W. E. Santen
المصدر: Genes, Vol 12, Iss 8, p 1275 (2021)
مصطلحات موضوعية: ARID1B, Coffin–Siris syndrome, ACMG guidelines, inherited, familial, variable expression, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Carlos A. Reck-Burneo, Alexander J. M. Dingemans, Victoria A. Lane, Jennifer Cooper, Marc A. Levitt, Richard J. Wood
المصدر: Frontiers in Surgery, Vol 5 (2018)
مصطلحات موضوعية: pediatric surgery, medical education, operative videos, manuscript, learning surgery, Surgery, RD1-811
وصف الملف: electronic resource
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المؤلفون: Alexander J M Dingemans, Max Hinne, Kim M G Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Illja J Diets, Joery den Hoed, Elke de Boer, Jet Coenen-van der Spek, Sandra Jansen, Bregje W van Bon, Noraly Jonis, Charlotte Ockeloen, Anneke T Vulto-van Silfhout, Tjitske Kleefstra, David A Koolen, Hilde Van Esch, Gholson J Lyon, Fowzan S Alkuraya, Anita Rauch, Ronit Marom, Diana Baralle, Pleuntje J van der Sluijs, Gijs W E Santen, R Frank Kooy, Marcel A J van Gerven, Lisenka E L M Vissers, Bert B A de Vries
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bd22bb951772c3e14bec8543a332a92a
https://doi.org/10.1101/2022.10.24.22281480 -
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المؤلفون: Jeroen Ewals, Kim M G Truijen, Sandra Jansen, Jozef Gecz, Diante E Stremmelaar, David A. Koolen, Bert B.A. de Vries, Alexander J. M. Dingemans, Michel Verbruggen, Lisenka E.L.M. Vissers, Noraly Jonis, Han G. Brunner, Evan E. Eichler, Maria J. Nabais Sá, Angela van Remortele, Sam van de Ven
المساهمون: Human genetics
المصدر: American Journal of Medical Genetics. Part A, 185, 1039-1046
American Journal of Medical Genetics. Part a
Dingemans, A J M, Stremmelaar, D E, Vissers, L E L M, Jansen, S, Nabais Sá, M J, van Remortele, A, Jonis, N, Truijen, K, van de Ven, S, Ewals, J, Verbruggen, M, Koolen, D A, Brunner, H G, Eichler, E E, Gecz, J & de Vries, B B A 2021, ' Human disease genes website series: An international, open and dynamic library for up-to-date clinical information ', American Journal of Medical Genetics, Part A, vol. 185, no. 4, pp. 1039-1046 . https://doi.org/10.1002/ajmg.a.62057
American Journal of Medical Genetics, Part A, 185(4), 1039-1046. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 185, 4, pp. 1039-1046مصطلحات موضوعية: phenotype, Computer science, HDG, World Wide Web, Human disease, Resource (project management), HDG website series, Clinical information, Genetics, medicine, Humans, Gene, Genetics (clinical), Gene Library, Internet, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genome, Human, Genetic Diseases, Inborn, online resource, Original Articles, medicine.disease, Digital library, Identification (information), Autism, Original Article, clinical data, Human genome, HPO
وصف الملف: application/pdf
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المؤلفون: Linde C. M. van Dongen, Tjitske Kleefstra, Ellen Wingbermühle, Monica Pop-Purceleanu, Karlijn Vermeulen, Alexander J. M. Dingemans, Jos I. M. Egger, Anja G. Bos-Roubos
المصدر: American Journal of Medical Genetics. Part a
American Journal of Medical Genetics. Part A, 182, 10, pp. 2384-2390
American Journal of Medical Genetics. Part A, 182, 2384-2390مصطلحات موضوعية: 0301 basic medicine, cognition, Psychological intervention, 030105 genetics & heredity, Clinical Reports, 03 medical and health sciences, Neurodevelopmental disorder, Intellectual disability, Genetics, medicine, contextual neuropsychology, Neuropsychological assessment, Cognitive skill, Witteveen–Kolk syndrome, Genetics (clinical), SIN3A, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Neuro- en revalidatiepsychologie, Clinical Report, medicine.diagnostic_test, Neuropsychology and rehabilitation psychology, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Cognition, Cognitive artificial intelligence, medicine.disease, neurodevelopmental disorder, 030104 developmental biology, case‐series, Autism, Psychology, Neurocognitive, Clinical psychology
وصف الملف: application/pdf
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المؤلفون: Claudia A. L. Ruivenkamp, Isabelle Maystadt, Scott E. Hickey, Bert B.A. de Vries, Marielle Alders, Stéphanie Moortgat, Bregje W.M. van Bon, Jill A. Rosenfeld, Kareesma Parbhoo, Catherine Vincent-Delorme, Johan T. den Dunnen, Thomas Smol, Debra S. Regier, Pleuntje J. van der Sluijs, Gijs W. E. Santen, Alexander J. M. Dingemans, Betsy Schmalz, Erica H. Gerkes, Bekim Sadikovic, Kyra E. Stuurman, Dan Doherty, Jennifer C. Dempsey, Ilana M. Milller
المساهمون: Human Genetics, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, Clinical Genetics
المصدر: Genes
Volume 12
Issue 8
Paediatrics Publications
Genes, 12
Genes, 12, 8
Genes, 12(8):1275. Multidisciplinary Digital Publishing Institute (MDPI)
Genes, 12(8)
GENES
Genes, Vol 12, Iss 1275, p 1275 (2021)
Genes, 12(8):1275. MDPI AGمصطلحات موضوعية: Male, Inherited, Coffin–Siris syndrome, Intellectual disability, QH426-470, PHENOTYPE, Variable Expression, Familial, non-pathogenic, ARID1B, Loss of Function Mutation, Child, Genetics (clinical), Genetics, RISK, familial, Middle Aged, ACMG guidelines, DNA-Binding Proteins, intellectual disability, DNA methylation, Medical genetics, Female, Haploinsufficiency, Hand Deformities, Congenital, Adult, medicine.medical_specialty, GENES, Adolescent, Genomics, Biology, Non-pathogenic, Article, Young Adult, All institutes and research themes of the Radboud University Medical Center, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, AUTISM, Gene, Loss function, Sequence (medicine), COMPLEX, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], DISABILITY, COFFIN-SIRIS SYNDROME, Variable expression, DNA Methylation, inherited, variable expression, Gene Expression Regulation, Face, Transcription Factors
وصف الملف: application/pdf
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المؤلفون: Ian R. Berry, Martin R. Larsen, Ann M. Neumeyer, Lilian Bomme Ousager, Leah J. Rowe, Richard E. Person, Chanika Phornphutkul, David A. Koolen, Constance T. R. M. Stumpel, Konrad Platzer, Elizabeth J. Bhoj, Eric Chater-Diehl, Jason Bunn, Erika Leenders, Koen L.I. van Gassen, Joshua Charkow, Rosanna Weksberg, Ny Hoang, Roos Cuperus, Davor Lessel, Rolph Pfundt, Oana Caluseriu, Sarah J. Goodman, Leandra Folk, Fanggeng Zou, Michelle T. Siu, David Chitayat, Dmitrijs Rots, Jeroen R. Vermeulen, Shuxi Liu, Cheryl Cytrynbaum, Elin Tønne, Hein Brackel, Mareike Mertens, Jennifer Campbell, Jonathan B. Strober, Maja Hempel, Tjitske Kleefstra, Małgorzata J.M. Nowaczyk, Amy Crunk, Marta Pacio-Míguez, Fernando Santos-Simarro, Nicola Brunetti-Pierri, Christa de Geus, María Palomares-Bralo, Lisenka E.L.M. Vissers, Sander Pajusalu, Peter Kannu, Sanaa Choufani, Kristin Lindstrom, Margarita Saenz, Berkley Schmidt, Daniëlle G.M. Bosch, Han G. Brunner, Arie van Haeringen, Ellen van Binsbergen, Brianna Pruniski, Claudia A. L. Ruivenkamp, William G. Wilson, Servi J. C. Stevens, Susan Walker, Kristian Tveten, Zain Awamleh, Gerarda Cappuccio, Alexander J. M. Dingemans, Michael Kwint, Ebba Alkhunaizi, Jonas Denecke, Alyssa Ritter, Eric W. Klee, Bert B.A. de Vries, Jeske V.T. van Harssel, Stephen Meyn, A. Chantal Deden, Francisca Millan, Eva Morava, Ingrid M. Wentzensen, Anne Slavotinek, Stephen W. Scherer, Katrin Õunap, Tuula Rinne, Jessica A. Radley, Yili Xie, Thatjana Gardeitchik, Laura Schultz-Rogers, Karit Reinson, Ronald D. Cohn, Hui Yang
المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, MUMC+: DA KG Lab Centraal Lab (9), Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, MUMC+: DA Klinische Genetica (5), Rots, Dmitrij, Chater-Diehl, Eric, Dingemans, Alexander J M, Goodman, Sarah J, Siu, Michelle T, Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert B A, Deden, A Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance T R M, Stevens, Servi J C, Vermeulen, Jeroen R, van Harssel, Jeske V T, Bosch, Danielle G M, van Gassen, Koen L I, van Binsbergen, Ellen, de Geus, Christa M, Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jona, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M, Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B, Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W, Berry, Ian R, Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M, Radley, Jessica A, Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G, Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roo, Santos-Simarro, Fernando, Palomares-Bralo, María, Pacio-Míguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tønne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Małgorzata J M, Cohn, Ronald D, Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W, Brunner, Han G, Vissers, Lisenka E L M, Kleefstra, Tjitske, Koolen, David A, Weksberg, Rosanna
المصدر: American journal of human genetics, vol 108, iss 6
American Journal of Human Genetics
American Journal of Human Genetics, 108, 1053-1068
American Journal of Human Genetics, 108, 6, pp. 1053-1068
American Journal of Human Genetics, 108(6), 1053-1068. CELL PRESS
Rots, D, Chater-Diehl, E, Dingemans, A J M, Goodman, S J, Siu, M T, Cytrynbaum, C, Choufani, S, Hoang, N, Walker, S, Awamleh, Z, Charkow, J, Meyn, S, Pfundt, R, Rinne, T, Gardeitchik, T, de Vries, B B A, Deden, A C, Leenders, E, Kwint, M, Stumpel, C T R M, Stevens, S J C, Vermeulen, J R, van Harssel, J V T, Bosch, D G M, van Gassen, K L I, van Binsbergen, E, de Geus, C M, Brackel, H, Hempel, M, Lessel, D, Denecke, J, Slavotinek, A, Strober, J, Crunk, A, Folk, L, Wentzensen, I M, Yang, H, Zou, F, Millan, F, Person, R, Xie, Y, Liu, S, Ousager, L B, Larsen, M, Schultz-Rogers, L, Morava, E, Klee, E W, Berry, I R, Campbell, J, Lindstrom, K, Pruniski, B, Radley, J A, Phornphutkul, C, Schmidt, B, Wilson, W G, Õunap, K, Reinson, K, Pajusalu, S, van Haeringen, A, Ruivenkamp, C, Cuperus, R, Santos-Simarro, F, Palomares-Bralo, M, Pacio-Míguez, M, Ritter, A, Bhoj, E, Tønne, E, Tveten, K, Cappuccio, G, Brunetti-Pierri, N, Rowe, L, Bunn, J, Saenz, M, Platzer, K, Mertens, M, Caluseriu, O, Nowaczyk, M J M, Cohn, R D, Kannu, P, Alkhunaizi, E, Chitayat, D, Scherer, S W, Brunner, H G, Vissers, L E L M, Kleefstra, T, Koolen, D A & Weksberg, R 2021, ' Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1053-1068 . https://doi.org/10.1016/j.ajhg.2021.04.008
American Journal of Human Genetics, 108(6), 1053-1068. Cell Pressمصطلحات موضوعية: 0301 basic medicine, Heart Septal Defects, Ventricular, Male, DNA methylation signature, nonsense-mediated decay, speech delay, PROTEIN, 030105 genetics & heredity, PHENOTYPE, epigenomic, Medical and Health Sciences, Epigenesis, Genetic, Craniofacial Abnormalities, Cohort Studies, Neurodevelopmental disorder, 2.1 Biological and endogenous factors, Aetiology, Genetics (clinical), Growth Disorders, Epigenomics, non-FLHS SRCAP-related NDD, Genetics, Adenosine Triphosphatases, Genetics & Heredity, neurodevelopmental disorders, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], SOTOS-LIKE, Biological Sciences, SRCAP, Hypotonia, AT-HOOK, 3. Good health, Phenotype, Mental Health, intellectual disability, Speech delay, DNA methylation, Female, medicine.symptom, Abnormalities, Multiple, EXON 34, Intellectual and Developmental Disabilities (IDD), Locus (genetics), Biology, genotype-phenotype correlation, DIAGNOSIS, Article, 03 medical and health sciences, Genetic, Clinical Research, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Floating-Harbor syndrome, SPECTRUM, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MUTATIONS, Heart Septal Defects, Infant, Newborn, Ventricular, dNaM, Infant, DNA Methylation, medicine.disease, Newborn, neurodevelopmental disorder, GENE, Brain Disorders, 030104 developmental biology, Floating–Harbor syndrome, Case-Control Studies, Mutation, epigenomics, EPISIGNATURES, Epigenesis
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::627d030c3d4e791377a8f96b90170fc8
https://escholarship.org/uc/item/16q9g96p -
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المؤلفون: Ingrid M.B.H. van de Laar, Eline A. Verberne, Kim M G Truijen, Marlon E F Wilsterman, Mieke M. van Haelst, Jung-Hyun Kim, Margje Sinnema, Erica H. Gerkes, Kathleen M Collins, Zahide Alaçam, Kristin Lindstrom, Alexander J. M. Dingemans, Hermine E. Veenstra-Knol, Mathilde Nizon, Lisenka E.L.M. Vissers, Anneke T. Vulto-van Silfhout, Astrid S Plomp, Laurence Faivre, Bert B.A. de Vries, Edyta Heropolitańska-Pliszka, Rani Sachdev, James Pauling, Eun-Young Erin Ahn, Jon Skranes, Caroline Racine
المساهمون: Human Genetics, Graduate School, MUMC+: DA KG Polikliniek (9), RS: FHML non-thematic output, Clinical Genetics, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: Eur J Hum Genet
European journal of human genetics. Nature Publishing Group
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics, 30, 3, pp. 271-281
European Journal of Human Genetics, 30(3), 271-281. Nature Publishing Group
Dingemans, A J M, Truijen, K M G, Kim, J-H, Alaçam, Z, Faivre, L, Collins, K M, Gerkes, E H, van Haelst, M, van de Laar, I M B H, Lindstrom, K, Nizon, M, Pauling, J, Heropolitańska-Pliszka, E, Plomp, A S, Racine, C, Sachdev, R, Sinnema, M, Skranes, J, Veenstra-Knol, H E, Verberne, E A, Vulto-van Silfhout, A T, Wilsterman, M E F, Ahn, E-Y E, de Vries, B B A & Vissers, L E L M 2021, ' Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-021-00960-4
European Journal of Human Genetics
European Journal of Human Genetics, 30, 271-281مصطلحات موضوعية: Developmental Disabilities, Mutation, Missense, Biology, Article, INTELLECTUAL-DISABILITY, Minor Histocompatibility Antigens, SDG 3 - Good Health and Well-being, Intellectual Disability, Human Phenotype Ontology, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Child, Gene, Genetics (clinical), Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Comment, Phenotypic trait, Cognitive artificial intelligence, Syndrome, medicine.disease, Phenotype, DNA-Binding Proteins, RNA splicing, Haploinsufficiency
وصف الملف: application/pdf
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