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المؤلفون: Nuzhat Rana, Edwin H. Jacobs, Ehsan Ghayoor Karimiani, Amber Begtrup, Jozef Hertecant, Evita Medici-van den Herik, Mohammad Doosti, Gouri Rao Passi, Mohammadreza Dehghani, Tjakko J. van Ham, Mariya Kozenko, Laila AlQuait, Mohammad Yahya Vahidi Mehrjardi, Dilek Colak, Herma C. van der Linde, Henry Houlden, Eleonora Aronica, Huma Arshad Cheema, Jennefer N. Kohler, Namik Kaya, Krishna Kumar Kandaswamy, Salem Alwadaee, Maysoon Alsagob, Woutje M. Berdowski, Zaynab Khazaei, Renjith Mani, Faisal Al Azri, Amna Al Futaisi, Stephanie Efthymiou, Majid Mojarrad, Aida M. Bertoli-Avella, Murat Gunel, Tahsin Stefan Barakat, Wilfred F. J. van IJcken, Kristin G. Monaghan, Rebecca I. Torene, Atieh Eslahi, Fathiya Al Murshedi, Khalid Awartani, Peter Bauer, Muddathir H. Hamad, Kyle Retterer, Reza Maroofian, Rawan Almass, Erik-Jan Kamsteeg, Serdar Coskun, Jonathan A. Bernstein, Elena Perenthaler, Anita Nikoncuk, Mohammed A. AlMuhaizea, Jana Vandrovcova, Anas M. Dababo, Soheil Yousefi, Fateme Massinaei Darmiyan, Mustafa A. Salih, Lauren Brick, A. Gulhan Ercan-Sencicek, Futwan Al-Mohanna, Ivan Čapo, Faisal Zafar, Khaled O. Alahmadi, Marjon van Slegtenhorst, Walter G. de Valk, Mazhor Al-Dosary, Wafa Qubbaj, Alice S. Brooks, Mehrnaz Ghazvini, Paul van den Berg, Darija Putar
المساهمون: Clinical Genetics, Cell biology, Neurology, Pathology, ANS - Cellular & Molecular Mechanisms, APH - Aging & Later Life, APH - Mental Health
المصدر: Acta Neuropathologica, 139(3), 415-442. Springer-Verlag
Acta Neuropathologica, 139, 3, pp. 415-442
Acta Neuropathologica
Acta neuropathologica, 139(3), 415-442. Springer Verlag
Acta Neuropathologica, 139, 415-442مصطلحات موضوعية: Gene isoform, Protein isoform, Male, Microcephaly, Recurrent mutation, UTP-Glucose-1-Phosphate Uridylyltransferase, UGP2, medicine.disease_cause, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, epileptic encephalopathy, ATG mutations, start-loss mutation, genetics, whole exome sequencing, microcephaly, recurrent mutation, founder mutation, essential gene, medicine, Genetics, Missense mutation, Animals, Humans, Allele, Founder mutation, Zebrafish, Exome sequencing, 030304 developmental biology, 0303 health sciences, Mutation, Original Paper, Brain Diseases, Genes, Essential, biology, Epileptic encephalopathy, Whole exome sequencing, Infant, biology.organism_classification, medicine.disease, 3. Good health, Pedigree, Start-loss mutation, Essential gene, Child, Preschool, Female, Neurology (clinical), Epileptic Syndromes, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Henry Houlden, Aida M. Bertoli-Avella, Marjon van Slegtenhorst, Edwin H. Jacobs, Ehsan Ghayoor Karimiani, Eleonora Aronica, Peter Bauer, Atieh Eslahi, Amna Al Futaisi, Tjakko J. van Ham, Jennefer N. Kohler, Stephanie Efthymiou, Reza Maroofian, Darija Putar, Mariya Kozenko, Jana Vandrovcova, Walter G. de Valk, Jonathan A. Bernstein, Amber Begtrup, Kyle Retterer, Renjith Mani, Jozef Hertecant, Evita Medici-van den Herik, Alice S. Brooks, Elena Perenthaler, Rebecca I. Torene, Woutje M. Berdowski, Wilfred F. J. van IJcken, Kristin G. Monaghan, Majid Mojarrad, Nuzhat Rana, Anita Nikoncuk, Faisal Zafar, Tahsin Stefan Barakat, Paul van den Berg, Soheil Yousefi, Krishna Kumar Kandaswamy, Ivan Čapo, Fathiya Al Murshedi, Fateme Massinaei Darmiyan, Faisal Al Azri, Lauren Brick, Erik-Jan Kamsteeg, Mehrnaz Ghazvini, Herma C. van der Linde, Mohammad Doosti, Zaynab Khazaei
مصطلحات موضوعية: Gene isoform, Protein isoform, Genetics, 0303 health sciences, Mutation, Biology, medicine.disease_cause, biology.organism_classification, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, medicine, Missense mutation, Allele, Gene, Zebrafish, 030217 neurology & neurosurgery, Exome sequencing, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06c4b577045a973710996858873c7795
https://doi.org/10.1101/799841 -
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المؤلفون: Eric W. Klee, Coranne D. Aarts-Tesselaar, Marwan Shinawi, Kazuhiko Namekata, Margot A. Cousin, Rhonda E. Schnur, Alejandro Ferrer, Marjon van Slegtenhorst, Marisa V. Andrews, Michael T. Zimmerman, Kimberly Wiltrout, Takayuki Harada, Ingrid M.B.H. van de Laar, Jennifer L. Kempainen, Dusica Babovic-Vuksanovic
المساهمون: Clinical Genetics
المصدر: Eur J Hum Genet
European Journal of Human Genetics, 27(8), 1225-1234. Nature Publishing Groupمصطلحات موضوعية: Proband, Male, Ataxia, Genotype, Developmental Disabilities, Nerve Tissue Proteins, Biology, Compound heterozygosity, Article, Loss of Function Mutation, Intellectual Disability, Exome Sequencing, Genetics, medicine, Missense mutation, Guanine Nucleotide Exchange Factors, Humans, Genetic Predisposition to Disease, Child, Gene, Genetics (clinical), Loss function, Exome sequencing, Infant, Hypotonia, Phenotype, Child, Preschool, Muscle Hypotonia, Female, medicine.symptom
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المؤلفون: Anna Lehman, Samrat Thouta, Grazia M.S. Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Kirsty McWalter, Richard Person, Jill Mwenifumbo, Ramona Salvarinova, Ilaria Guella, Marna B. McKenzie, Anita Datta, Mary B. Connolly, Somayeh Mojard Kalkhoran, Damon Poburko, Jan M. Friedman, Matthew J. Farrer, Michelle Demos, Sonal Desai, Thomas Claydon, Shelin Adam, Christèle du Souich, Alison M. Elliott, Tanya N. Nelson, Clara van Karnebeek, Cyrus Boelman, Corneliu Bolbocean, Sarah E. Buerki, Tara Candido, Patrice Eydoux, Daniel M. Evans, William Gibson, Gabriella Horvath, Linda Huh, Graham Sinclair, Tamsin Tarling, Eric B. Toyota, Katelin N. Townsend, Margot I. Van Allen, Suzanne Vercauteren
المساهمون: Clinical Genetics, Paediatric Metabolic Diseases, ANS - Cellular & Molecular Mechanisms, ANS - Compulsivity, Impulsivity & Attention, AGEM - Inborn errors of metabolism, ANS - Amsterdam Neuroscience, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism
المصدر: American Journal of Human Genetics, 101(1), 65-74. Cell Press
American journal of human genetics, 101(1), 65-74. Cell Pressمصطلحات موضوعية: 0301 basic medicine, Proband, Biology, medicine.disease_cause, Article, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Genetics (clinical), Loss function, Exome sequencing, Mutation, KCNQ Potassium Channels, Electroencephalography, medicine.disease, potassium channels, Phenotype, Kv7.5, 030104 developmental biology, epileptic encephalopathy, intellectual disability, epilepsy, Mutant Proteins, Ion Channel Gating, Sequence Alignment, 030217 neurology & neurosurgery, KCNQ5
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