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1دورية أكاديمية
المؤلفون: Maayan Kagan, Rotem Semo-Oz, Yishay Ben Moshe, Danit Atias-Varon, Irit Tirosh, Michal Stern-Zimmer, Aviva Eliyahu, Annick Raas-Rothschild, Maayan Bivas, Omer Shlomovitz, Odelia Chorin, Rachel Rock, Michal Tzadok, Bruria Ben-Zeev, Gali Heimer, Yoav Bolkier, Noah Gruber, Adi Dagan, Bat El Bar Aluma, Itai M. Pessach, Gideon Rechavi, Ortal Barel, Ben Pode-Shakked, Yair Anikster, Asaf Vivante
المصدر: Frontiers in Genetics, Vol 13 (2023)
مصطلحات موضوعية: exome sequencing (ES), general pediatrics, monogenic, hospitalized, inpatient, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Ben Pode-Shakked, Ortal Barel, Amihood Singer, Miriam Regev, Hana Poran, Aviva Eliyahu, Yael Finezilber, Meirav Segev, Michal Berkenstadt, Hagith Yonath, Haike Reznik-Wolf, Yael Gazit, Odelia Chorin, Gali Heimer, Lidia V. Gabis, Michal Tzadok, Andreea Nissenkorn, Omer Bar-Yosef, Efrat Zohar-Dayan, Bruria Ben-Zeev, Nofar Mor, Nitzan Kol, Omri Nayshool, Noam Shimshoviz, Ifat Bar-Joseph, Dina Marek-Yagel, Elisheva Javasky, Reviva Einy, Moran Gal, Julia Grinshpun-Cohen, Mordechai Shohat, Dan Dominissini, Annick Raas-Rothschild, Gideon Rechavi, Elon Pras, Lior Greenbaum
المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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3دورية أكاديمية
المؤلفون: Shira Rabinowicz, Tal Schreiber, Gali Heimer, Omer Bar-Yosef, Andreea Nissenkorn, Zohar-Dayan E, Leo Arkush, Nasrin Hamed, Bruria Ben-Zeev, Michal Tzadok
المصدر: Frontiers in Neurology, Vol 13 (2022)
مصطلحات موضوعية: felbamate, epilepsy, electrical status epilepticus during sleep, herpes, drug resistance, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Alexander Kolevzon, Pamela Ventola, Christopher J. Keary, Gali Heimer, Jeffrey L. Neul, Mathews Adera, Judith Jaeger
المصدر: Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-13 (2021)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Pisani, Conceicao Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Gueden, Omer Bar-Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago-Sim, Richard E. Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong-Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael A. Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad M. Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz-Rogers, Eric W. Klee, David Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier Gonzalez-Peñas, Angel Carracedo, Arie Van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Heron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, SYNAPS Study Group, Miquel Raspall-Chaure, Michael Chez, Anne Tsai, Emily Fassi, Marwan Shinawi, John N. Constantino, Rita De Zorzi, Sara Fortuna, Fernando Kok, Boris Keren, Dominique Bonneau, Murim Choi, Bruria Benzeev, Federico Zara, Heather C. Mefford, Ingrid E. Scheffer, Jill Clayton-Smith, Alfons Macaya, James E. Rothman, Evan E. Eichler, Dimitri M. Kullmann, Henry Houlden
المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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6دورية أكاديمية
المؤلفون: Yuval E. Landau, Gali Heimer, Ortal Barel, Nechama Shalva, Dina Marek-Yagel, Alvit Veber, Elisheva Javasky, Aya Shilon, Andreea Nissenkorn, Bruria Ben-Zeev, Yair Anikster
المصدر: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100631- (2020)
مصطلحات موضوعية: D-bifunctional protein, Peroxisomal, Neonatal seizures, Retinopathy, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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7
المؤلفون: Michal, Tzadok, Nasrin, Hamed, Gali, Heimer, Efrat, Zohar-Dayan, Shira, Rabinowicz, Bruria, Ben Zeev
المصدر: Pediatric Neurology. 136:15-19
مصطلحات موضوعية: Drug Resistant Epilepsy, Epilepsy, Adolescent, Developmental Neuroscience, Neurology, Seizures, Pediatrics, Perinatology and Child Health, Cannabidiol, Humans, Anticonvulsants, Neurology (clinical), Child, Cannabis, Retrospective Studies
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8
المؤلفون: Andreea Nissenkorn, Gerhard Kluger, Susanne Schubert‐Bast, Allan Bayat, Marya Bobylova, Paolo Bonanni, Berten Ceulemans, Antonietta Coppola, Carlo Di Bonaventura, Martha Feucht, Anne Fuchs, Gudrun Gröppel, Gali Heimer, Brigitte Herdt, Sviatlana Kulikova, Konstantin Mukhin, Stefania Nicassio, Alessandro Orsini, Maria Panagiotou, Milka Pringsheim, Burkhard Puest, Olga Pylaeva, Georgia Ramantani, Maria Tsekoura, Paolo Ricciardelli, Tally Lerman Sagie, Brigit Stark, Pasquale Striano, Andreas van Baalen, Matthias De Wachter, Emanuele Cerulli Irelli, Claudia Cuccurullo, Celina von Stülpnagel, Angelo Russo
المصدر: Epilepsia
مصطلحات موضوعية: Perampanel, genetic epilepsies, precision therapy, Neurology, Neurology (clinical), Human medicine
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9
المؤلفون: Zaid Afawi, Shekeeb S. Mohammad, Geoffrey Wallace, Ayelet Zerem, Amy L Schneider, Kyra E. Stuurman, Deepak Gill, Alison M. Muir, Russell C. Dale, Gali Heimer, Martino Montomoli, Elena Gardella, Emmanuelle Ranza, Simone Mandelstam, Peter Procopis, Øyvind L. Busk, Christian Korff, Arjan Bouman, Boudewijn Gunning, Connie T.R.M. Stumpel, Yunus Balcik, Christa de Geus, Philipp S. Reif, Yue-Hua Zhang, Sameer M. Zuberi, Volodymyr Kharytonov, Sébastien Küry, Patrick Edery, Sebastien Moutton, Trine Bjørg Hammer, Hannah Stamberger, Joseph D. Symonds, Gaetan Lesca, Samuel F. Berkovic, Massimiliano Rossi, Danique R.M. Vlaskamp, Eric W. Klee, Mark T Mackay, Felix Rosenow, Erica L. Macke, Chirag Patel, Jacob Bie Granild-Jensen, Helenius J. Schelhaas, Danielle M. Andrade, Lynette G. Sadleir, Iris M de Lange, Roseline Caumes, Eva Morava, Frédéric Tran Mau-Them, Anita Cairns, Keren Yosovich, Jing Zhang, Bruria Ben Zeev, Nicolas Chatron, Dorit Lev, Laura Reed, Pauline Monin, Eva H. Brilstra, Birgitte Bertelsen, Georgie Hollingsworth, Nienke E. Verbeek, Heather C Mefford, Rikke S. Møller, Johan R. Helle, Christina Fenger, Meriel McEntagart, Thomas Smol, Mark F. Bennett, Yuri A. Zarate, Renzo Guerrini, Elena Parrini, Candace T. Myers, Judith S. Verhoeven, Bertrand Isidor, Ruth Shalev, David A. Koolen, Ingrid E. Scheffer, Bobby P. C. Koeleman, Lauren Gunderson, Michael S. Hildebrand, Tara Sadoway, Richard J. Leventer, Sanjay M. Sisodiya, Krati Shah, Edith P. Almanza Fuerte
المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Clinical Genetics
المصدر: Genetics in Medicine, 23(2), 363-373. Nature Publishing Group
Genetics in Medicine, 23, 2, pp. 363-373
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y H, Møller, R S & Scheffer, I E 2021, ' NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns ', Genetics in Medicine, vol. 23, no. 2, pp. 363-373 . https://doi.org/10.1038/s41436-020-00988-9
Genetics in medicine
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y-H, Møller, R S & Scheffer, I E 2021, ' NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 23, no. 2, pp. 363-373 . https://doi.org/10.1038/s41436-020-00988-9
Genetics in Medicine, Vol. 23, No 2 (2021) pp. 363-373
Genetics in Medicine, 23(2), 363-373. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 363-373مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, INTELLECTUAL DISABILITY, Autism Spectrum Disorder, Encephalopathy, Nerve Tissue Proteins, ILAE COMMISSION, MOSAICISM, Epilepsy/genetics, CLASSIFICATION, Epilepsy, Brain Diseases/genetics, Genes, X-Linked, Seizures, Intellectual disability, Genotype, medicine, Humans, developmental and epileptic encephalopathy, MYOCLONIA, Atonic seizure, Genetics (clinical), Brain Diseases, ddc:618, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], KIAA2022, business.industry, MUTATIONS, medicine.disease, Phenotype, Autism Spectrum Disorder/genetics, Genes, X-Linked/genetics, Autism spectrum disorder, intellectual disability, NEXMIF, Autism, epilepsy, Female, INACTIVATION, Human medicine, Seizures/genetics, business, POSITION PAPER
وصف الملف: application/pdf
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10
المؤلفون: Oren Shatz, Zvulun Elazar, Milana Fraiberg, Nemanja Subic, Karsten Nalbach, Bat-Chen Tamim-Yecheskel, Bruria Ben-Zeev, Christian Behrends, Gali Heimer, Kamilya Kokabi, Franziska Eck
المصدر: Autophagy
مصطلحات موضوعية: 0301 basic medicine, animal structures, 030102 biochemistry & molecular biology, Autophagy, Neurodegeneration, Autophagosomes, Nerve Tissue Proteins, Cell Biology, Biology, medicine.disease, Domain (software engineering), Cell biology, body regions, 03 medical and health sciences, 030104 developmental biology, medicine.anatomical_structure, Lysosome, medicine, Humans, Lysosomal targeting, Carrier Proteins, Lysosomes, Molecular Biology, Research Paper