المؤلفون: Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie J. Russ-Hall, Amy L. Schneider, Emily S. Bonkowski, Edith P. Almanza Fuerte, Talia J. Allan, Miranda Perez-Galey Zalusky, Joy Goffena, Sophia B. Gibson, Denis M. Nyaga, Nico Lieffering, Malavika Hebbar, Emily V. Walker, Daniel Darnell, Scott R. Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Raissa Relator, Dorit Lev, Tally Lerman-Sagie, Kristen L. Park, Marielle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaetan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L. Tedder, Sachin Gupta, Elizabeth A. Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim C. Worley, Jill A. Rosenfeld, Hsiao-Tuan Chao, Undiagnosed Diseases Network, Geoffrey Neale, Gemma L. Carvill, University of Washington Center for Rare Disease Research, Zhaoming Wang, Samuel F. Berkovic, Lynette G. Sadleir, Danny E. Miller, Ingrid E. Scheffer, Bekim Sadikovic, Heather C. Mefford

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/56ab879163324f04934308a670c8a49d

المؤلفون: Aaron Hanukoglu, Ehud Banne, Dorit Lev, Julio Wainstein

المصدر: Clinical Medicine Insights: Endocrinology and Diabetes, Vol 17 (2024)

مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1179-5514

URL الوصول: https://doaj.org/article/0f8b3c78e51f47cf82a5e69fd5d25d77

المؤلفون: Leila Haddad, Efrat Hadi, Zvi Leibovitz, Dorit Lev, Yoseph Shalev, Liat Gindes, Tally Lerman-Sagie

المصدر: Frontiers in Neuroscience, Vol 18 (2024)

مصطلحات موضوعية: fetal, microcephaly, ultrasound, diagnosis, neurosonography of fetus, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2024.1347506/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/659aa94f7c3040cabc69789cd0771020

المؤلفون: Avi Fellner, Yael Goldberg, Dorit Lev, Lina Basel-Salmon, Oded Shor, Felix Benninger

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/f779275a9eed4160baa2920a67b8e8ac

المؤلفون: Talia Jacobi‐Polishook, Naama Yosha‐Orpaz, Yair Sagi, Dorit Lev, Tally Lerman‐Sagie

المصدر: JIMD Reports, Vol 56, Iss 1, Pp 9-13 (2020)

مصطلحات موضوعية: ACAD9, cardiomyopathy, fatty acid oxidation, mitochondrial disease, pregnancy, riboflavin, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/8fd83601280647efb33fa0d87f31833f

المؤلفون: Elena V. Pavlova, Dorit Lev, Marina Michelson, Keren Yosovich, Hila Gur Michaeli, Nicholas A. Bright, Paul T. Manna, Veronica Kane Dickson, Karen L. Tylee, Heather J. Church, J. Paul Luzio, Timothy M. Cox

المصدر: Human Mutation. 43:2265-2278

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ebf531dddae20bafeb98c6c321455e5
https://doi.org/10.1002/humu.24479

المؤلفون: Einav Kadour Peero, Nir Kugelman, Liat Gindes, Avi Shariv, Dorit Lev, Mordechai Tamarkin, Leila Haddad, Hassan Bakry, Boris Weizman, Israel Shapiro, Ayala Arad, Dvora Kidron, Tally Lerman‐Sagie, Zvi Leibovitz

المصدر: Prenatal Diagnosis.

مصطلحات موضوعية: Obstetrics and Gynecology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c591c415f976982e984964dd36075d80
https://doi.org/10.1002/pd.6359

المؤلفون: Hanna Wimberg, Dorit Lev, Keren Yosovich, Prasanthi Namburi, Eyal Banin, Dror Sharon, Karl-Wilhelm Koch

المصدر: Frontiers in Molecular Neuroscience, Vol 11 (2018)

مصطلحات موضوعية: GUCY2D mutation, Leber congenital amaurosis, cone-rod dystrophy, guanylate cyclase, RD3 protein, GCAP, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fnmol.2018.00348/full; https://doaj.org/toc/1662-5099

URL الوصول: https://doaj.org/article/f970ee8f04464b5182b33936892516ca

المؤلفون: Ayelet Zerem, Stephanie Libzon, Liat Ben Sira, Hadas Meirson, Moran Hausman-Kedem, Noam Haviv, Keren Yosovich, Adi Mory, Hagit Baris Feldman, Dorit Lev, Tally Lerman-Sagie, Aviva Fattal-Valevski, Yael Hacohen, Daphna Marom

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13b5b371964610af44b2760d47c8a342
https://doi.org/10.2139/ssrn.4344633

المؤلفون: Richard H. van Jaarsveld, Jack Reilly, Marie-Claire Cornips, Michael A. Hadders, Emanuele Agolini, Priyanka Ahimaz, Kwame Anyane-Yeboa, Severine Audebert Bellanger, Ellen van Binsbergen, Marie-Jose van den Boogaard, Elise Brischoux-Boucher, Raymond C. Caylor, Andrea Ciolfi, Ton A.J. van Essen, Paolo Fontana, Saskia Hopman, Maria Iascone, Margaret M. Javier, Erik-Jan Kamsteeg, Jennifer Kerkhof, Jun Kido, Hyung-Goo Kim, Tjitske Kleefstra, Fortunato Lonardo, Abbe Lai, Dorit Lev, Michael A. Levy, M.E. Suzanne Lewis, Angie Lichty, Marcel M.A.M. Mannens, Naomichi Matsumoto, Idit Maya, Haley McConkey, Andre Megarbane, Vincent Michaud, Evelina Miele, Marcello Niceta, Antonio Novelli, Roberta Onesimo, Rolph Pfundt, Bernt Popp, Eloise Prijoles, Raissa Relator, Sylvia Redon, Dmitrijs Rots, Karen Rouault, Ken Saida, Jolanda Schieving, Marco Tartaglia, Romano Tenconi, Kevin Uguen, Nienke Verbeek, Christopher A. Walsh, Keren Yosovich, Christopher J. Yuskaitis, Giuseppe Zampino, Bekim Sadikovic, Mariëlle Alders, Renske Oegema

المساهمون: Human Genetics, ACS - Pulmonary hypertension & thrombosis, Amsterdam Reproduction & Development (AR&D), Human genetics

المصدر: Genetics in Medicine, 25, 1, pp. 49-62
van Jaarsveld, R H, Reilly, J, Cornips, M-C, Hadders, M A, Agolini, E, Ahimaz, P, Anyane-Yeboa, K, Bellanger, S A, van Binsbergen, E, van den Boogaard, M-J, Brischoux-Boucher, E, Caylor, R C, Ciolfi, A, van Essen, T A J, Fontana, P, Hopman, S, Iascone, M, Javier, M M, Kamsteeg, E-J, Kerkhof, J, Kido, J, Kim, H-G, Kleefstra, T, Lonardo, F, Lai, A, Lev, D, Levy, M A, Lewis, M E S, Lichty, A, Mannens, M M A M, Matsumoto, N, Maya, I, McConkey, H, Megarbane, A, Michaud, V, Miele, E, Niceta, M, Novelli, A, Onesimo, R, Pfundt, R, Popp, B, Prijoles, E, Relator, R, Redon, S, Rots, D, Rouault, K, Saida, K, Schieving, J, Tartaglia, M, Tenconi, R, Uguen, K, Verbeek, N, Walsh, C A, Yosovich, K, Yuskaitis, C J, Zampino, G, Sadikovic, B, Alders, M & Oegema, R 2023, ' Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature ', Genetics in Medicine, vol. 25, no. 1, pp. 49-62 . https://doi.org/10.1016/j.gim.2022.09.006
Genetics in medicine, 25(1), 49-62. Lippincott Williams and Wilkins
Genetics in Medicine, 25(1), 49-62. Lippincott Williams and Wilkins
Genetics in Medicine, 25, 49-62
Genetics in Medicine, 25(1), 49-62. Nature Publishing Group

مصطلحات موضوعية: MDEMs, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], KDM2B, Methylation signatures, Neurodevelopmental disorders, Human Genetics, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Genetics (clinical), Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2e9527bbc3853240983032791841559
https://repository.ubn.ru.nl/handle/2066/290808