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1دورية أكاديمية
المؤلفون: Sahar Elouej, Karim Harhouri, Morgane Le Mao, Genevieve Baujat, Sheela Nampoothiri, Hϋlya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean-François Deleuze, Agnes Rötig, Peter Bauer, Catarina Pereira, Abigail Loh, Nathalie Escande-Beillard, Antoine Muchir, Lisa Martino, Yosef Gruenbaum, Song-Hua Lee, Philippe Manivet, Guy Lenaers, Bruno Reversade, Nicolas Lévy, Annachiara De Sandre-Giovannoli
المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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2دورية أكاديمية
المؤلفون: Mary Gerges, Laila Selim, Marian Girgis, Amr El Ghannam, Hadeer Abdelghaffar, Ahmed El-Ayadi
المصدر: Epilepsy and Behavior Case Reports, Vol 11, Iss , Pp 35-38 (2019)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2213323218300574Test; https://doaj.org/toc/2213-3232Test
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3دورية أكاديمية
المؤلفون: Sahar Elouej, Karim Harhouri, Morgane Le Mao, Genevieve Baujat, Sheela Nampoothiri, Hϋlya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean-François Deleuze, Agnes Rötig, Peter Bauer, Catarina Pereira, Abigail Loh, Nathalie Escande-Beillard, Antoine Muchir, Lisa Martino, Yosef Gruenbaum, Song-Hua Lee, Philippe Manivet, Guy Lenaers, Bruno Reversade, Nicolas Lévy, Annachiara De Sandre-Giovannoli
المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-1 (2020)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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4دورية أكاديمية
المؤلفون: Laila Selim, Nehal Abdelhamid, Emad Salama, Amera Elbadawy, Iman Gamalel Din, Mohamed Abd Elmoneim, Abeer Selim
المصدر: Journal of Clinical and Diagnostic Research, Vol 10, Iss 11, Pp SC05-SC08 (2016)
مصطلحات موضوعية: echocardiography, enzyme replacement theory, paediatrics, Medicine
وصف الملف: electronic resource
العلاقة: https://jcdr.net/articles/PDF/8851/21135_CETest[Ra1]_F(GH)_PF1(PI_VJ)_PFA(AK)_PF2(PAG).pdf; https://doaj.org/toc/2249-782XTest; https://doaj.org/toc/0973-709XTest
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5دورية أكاديمية
المؤلفون: Mustafa Al-Chalabi, Ahmad Fathy, Allyson Kelley, Laila Selim, Areef Ramadan, Mariam Noor, Shilen V. Lakhani, Naeem Mahfooz
مصطلحات موضوعية: Copper and Zinc in Health and Disease, Nutrition and Dietetics, FOS Health sciences, Nursing, Health Sciences, Functions and Regulation of RNA Editing by ADARs, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Molecular Mechanisms of Ion Channels Regulation, Copper, ATP7A, Menkes disease, Ceruloplasmin, Copper deficiency, Medicine, Disease, Physiology, FOS Biological sciences, Pediatrics, Copper metabolism, Internal medicine, ATPase, Chemistry, Biochemistry, Organic chemistry, Enzyme
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6دورية أكاديمية
المؤلفون: Lígia S. Almeida, Catarina Pereira, Ruxandra Aanicai, Sabine Schröder, Tomasz Bochinski, Anett Kaune, Alice Urzì, Tania C. L. S. Spohr, Nikenza Viceconte, Sebastian Oppermann, Mohammed Alasel, Saeedeh Ebadat, Sadaf Iftikhar, Eresha Jasinge, Solaf M. Elsayed, Hoda Tomoum, Iman Marzouk, Anil Jalan, Agnė Čerkauskaitė, Rimantė Čerkauskienė, Tinatin Tkemaladze, Anjum Muhammad Nadeem, Iman Gamal El Din Mahmoud, Fawzia Amer Mossad, M. Kamel, Laila Selim, Huma Arshad Cheema, Omid Paknia, Claudia Cozma, Carlos Juaristi-Manrique, Pilar Guatibonza-Moreno, Tobias Böttcher, Florian Vogel, Jorge Pinto‐Basto, Aida M. Bertoli‐Avella, Péter Bauer
مصطلحات موضوعية: Lysosomal Storage Disorders in Human Health and Disease, Physiology, FOS Biological sciences, Medicine, Health Sciences, Standards and Guidelines for Genetic Variant Interpretation, Genetics, Biochemistry, Genetics and Molecular Biology, Life Sciences, Nucleotide Metabolism and Enzyme Regulation, Molecular Biology, Pathogenicity Prediction, Genetic testing, Disease, Cohort, Exome sequencing, Medical genetics, Genetic diagnosis, Bioinformatics, FOS Computer and information sciences, Biology, Gene, Internal medicine, Phenotype
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7دورية أكاديمية
المؤلفون: Sahar Elouej, Karim Harhouri, Morgane Le Mao, Geneviève Baujat, Sheela Nampoothiri, Hülya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean‐François Deleuze, Agnès Rötig, Peter Bauer, Catarina Pereira, Abigail Loh, Nathalie Escande‐Beillard, Antoine Muchir, Lisa Martino, Yosef Gruenbaum, Song-Hua Lee, Philippe Manivet, Guy Lenaers, Bruno Reversade, Nicolas Lévy, Annachiara De Sandre-Giovannoli
مصطلحات موضوعية: RNA Methylation and Modification in Gene Expression, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Mitochondrial Dynamics and Reactive Oxygen Species Regulation, Structure and Function of the Nuclear Pore Complex, Mitochondrial Fission, Premature aging, Biology, MFN2, LMNA, Pathology, Mitochondrion, Cancer research, Cell biology, Mitochondrial DNA, Lamin, Internal medicine, Genetics, FOS Biological sciences, mitochondrial fusion, Medicine, Nucleus, Gene
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8
المؤلفون: Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan G Karimiani, Anna Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrosio Fock, Christian Beetz, Claudia A L Ruivenkamp, Alison J Eaton, Francois D Morneau-Jacob, Lena Sagi-Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad-Halloun, Daan J Kamphuis, Cacha M P C D Peeters-Scholte, Semra Hiz Kurul, Rita Horvath, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M Muir, Aboulfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna S Povolotskaya, Victoria Y Voinova, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Fowzan S Alkuraya, Heather C Mefford, Majid Alfadhel, Tobias B Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst-Hofstee, Henry Houlden
المساهمون: Neurology, Clinical Genetics, Department of Medical and Clinical Genetics, University of Helsinki, Medicum, HUSLAB, Department of Pathology
المصدر: Brain, 145(7), 2301-2312. OXFORD UNIV PRESS
Brain, 145(7), 2301-2312. Oxford University Pressمصطلحات موضوعية: Brain Diseases, Drug Resistant Epilepsy, CYSTIC-FIBROSIS, GENES, LEUCINE-RICH, 3112 Neurosciences, ADAM22, Intracellular Signaling Peptides and Proteins, PROTEIN, Nerve Tissue Proteins, PHENOTYPE, 3124 Neurology and psychiatry, refractory seizures, ADAM Proteins, Humans, SEIZURES, LGI1, LIMBIC ENCEPHALITIS, Neurology (clinical), developmental and epileptic encephalopathy, Atrophy, Epilèpsia en els infants, Disks Large Homolog 4 Protein
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a2378a027a1f91cd1deec43f224121eTest
https://doi.org/10.1093/brain/awac116Test -
9دورية أكاديمية
المؤلفون: Claudia Cozma, Marina Hovakimyan, Marius‐Ionuţ Iuraşcu, Nawal Makhseed, Laila Selim, Amal Alhashem, Tawfeg Ben‐Omran, Iman G. Mahmoud, Nihal M. Al Menabawy, Mariam Almureikhi, Magi Martin, Laura Demuth, Zafer Yüksel, Christian Beetz, Péter Bauer, Arndt Rolfs
مصطلحات موضوعية: Biological Agents for Bioterrorism, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Epidemiology and Pathobiology of Monkeypox Virus Infection, Virology, Immunology and Microbiology, Bacterial Pathogenesis in Animal and Human Health, Microbiology, FOS Biological sciences, Epidemiological Characteristics, Biomarker, Cohort, Biology, Genetics, Metabolomics, Hyaline, Pathology, Internal medicine, Medicine, Bioinformatics, FOS Computer and information sciences, Oncology
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10دورية أكاديمية
المؤلفون: Caroline Dias, Jaya Punetha, Céline Zheng, Neda Mazaheri, Abolfazl Rad, Stéphanie Efthymiou, Andrea Petersen, Mohammadreza Dehghani, Davut Pehli̇van, Jennifer N. Partlow, Jennifer E. Posey, Vincenzo Salpietro, Alper Gezdirici, Reza Azizi Malamiri, Nihal M. Al Menabawy, Laila Selim, Mohammad Yahya Vahidi Mehrjardi, Selina Banu, Daniel L. Polla, Edward Yang, Jamileh Rezazadeh Varaghchi, Tadahiro Mitani, Ellen van Beusekom, Maryam Najafi, Alireza Sedaghat, Jennifer Keller‐Ramey, L. Kathryn Durham, Zeynep Coban‐Akdemir, Ender Karaca, Valeria V. Orlova, Lieke L.M. Schaeken, Amir Sherafat, Shalini N. Jhangiani, Valentina Stanley, Gholamreza Shariati, Hamid Galehdari, Joseph G. Gleeson, Christopher A. Walsh, James R. Lupski, Elena Seiradake, Henry Houlden, Hans van Bokhoven, Reza Maroofian
مصطلحات موضوعية: Molecular Mechanisms of Axon Guidance, Cellular and Molecular Neuroscience, Neuroscience, Life Sciences, Mechanisms of Intracellular Membrane Trafficking, Cell Biology, Biochemistry, Genetics and Molecular Biology, Role of Hippo Signaling Pathway in Mechanotransduction, Neural Development, Netrins, Missense mutation, Netrin, Genetics, FOS Biological sciences, Biology, Phenotype, Gene, Axon guidance, Receptor