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1دورية أكاديمية
المؤلفون: Justine H. Liang, Jonathan Alevy, Viktor Akhanov, Ryan Seo, Cory A. Massey, Danye Jiang, Joy Zhou, Roy V. Sillitoe, Jeffrey L. Noebels, Melanie A. Samuel
المصدر: Disease Models & Mechanisms, Vol 15, Iss 9 (2022)
مصطلحات موضوعية: kctd7, epilepsy, seizure, motor defects, cerebellum, vasculature, Medicine, Pathology, RB1-214
وصف الملف: electronic resource
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2دورية أكاديمية
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3
المصدر: Clin Dysmorphol
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Potassium Channels, KCTD7, business.industry, Mutation, Missense, General Medicine, Progressive myoclonus epilepsy, Myoclonic Epilepsies, Progressive, medicine.disease, Article, Pathology and Forensic Medicine, Exome Sequencing, Pediatrics, Perinatology and Child Health, medicine, Humans, Anatomy, business, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ff401db7e26cd91a5364d89d8a562ae
https://doi.org/10.1097/mcd.0000000000000394 -
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المؤلفون: Mizanur Rahman, Kanij Fatema
المصدر: Journal of Epilepsy Research
مصطلحات موضوعية: 0301 basic medicine, Bangladesh, Pediatrics, medicine.medical_specialty, Epilepsy, business.industry, KCTD7, Progressive myoclonus epilepsy, medicine.disease, Precision medicine, Gene, Cockayne syndrome, Developmental disorder, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Mutation, Intellectual disability, medicine, Attention deficit hyperactivity disorder, Original Article, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a9cde9a08e0825ef50f7be25b891b24
https://doi.org/10.14581/jer.21004 -
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المؤلفون: Yan Huang, May Christine V. Malicdan, Camilo Toro, William A. Gahl, Raman Sood, Paul G. Fisher, Gregory M. Enns, Shruti Marwaha, Edward P Frothingham, Abdel G. Elkahloun, Liliana Fernandez, Stephen B. Montgomery, Lynne A. Wolfe, Brian Harding, Elizabeth A. Burke, Thomas C. Markello, Diane B. Zastrow, Laure Fresard, Morgan L. Sturgeon, Kevin Bishop, Cameron J. Prybol, Alexander G. Bassuk, Patricia A. Ward, Christine M. Eng, Blake Carrington, Matthew T. Wheeler
المصدر: Journal of Neurogenetics. 35:74-83
مصطلحات موضوعية: 0301 basic medicine, Genetics, Protein family, KCTD7, Progressive myoclonus epilepsy, Biology, medicine.disease, biology.organism_classification, Compound heterozygosity, 03 medical and health sciences, Cellular and Molecular Neuroscience, Epilepsy, 030104 developmental biology, 0302 clinical medicine, medicine, medicine.symptom, Myoclonus, Zebrafish, 030217 neurology & neurosurgery, Exome sequencing
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المؤلفون: Debopam Samanta, Bahareh Rabbani, Nejat Mahdieh, Seyyed Mohammad Mahdi Hosseiny, Masoud Garshasbi, Reza Shervin Badv, Sima Binaafar, Ali Reza Tavasoli
المصدر: Developmental Neuroscience. 43:348-357
مصطلحات موضوعية: Sanger sequencing, Genetics, KCTD7, Encephalopathy, Biology, medicine.disease, symbols.namesake, Epilepsy, Genotype-phenotype distinction, Developmental Neuroscience, Neurology, Genetic variation, symbols, medicine, Gene, Non syndromic
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::987ccc0eaa41e1448ec29525f4f3fbc8
https://doi.org/10.1159/000519318 -
7دورية أكاديمية
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8دورية أكاديمية
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9
المؤلفون: Stephan Storch, Brecht Guillemyn, Bart P. Leroy, Miriam Bauwens, Rudy Van Coster, Elfride De Baere, Frauke Coppieters, Nicole Weisschuh, Sarah De Jaegere, Chantal Ceuterick-de Groote, Riet De Rycke
المصدر: CLINICAL GENETICS
Clinical genetics
Clinical Geneticsمصطلحات موضوعية: 0301 basic medicine, Proband, KCTD7, ABCA4, 030105 genetics & heredity, whole exome sequencing, Macular Degeneration, Medicine and Health Sciences, Child, Genetics (clinical), Exome sequencing, medicine.diagnostic_test, biology, Homozygote, CLN3, CLN7, inherited retinal disease, functional studies, Original Article, Female, neuronal ceroid lipofuscinosis, MFSD8 variants, Batten disease, Retina, maculopathy, 03 medical and health sciences, Microscopy, Electron, Transmission, MISSENSE MUTATION, Neuronal Ceroid-Lipofuscinoses, Exome Sequencing, INFANTILE, Genetics, medicine, Humans, SPECTRUM, IDENTIFICATION, locus resequencing of ABCA4, Genetic Variation, Membrane Transport Proteins, Biology and Life Sciences, Original Articles, NEURONAL CEROID-LIPOFUSCINOSIS, medicine.disease, GENE, Molecular biology, LYSOSOMAL MEMBRANE-PROTEIN, 030104 developmental biology, Mutation, Skin biopsy, biology.protein, Maculopathy, Neuronal ceroid lipofuscinosis, Human medicine, BATTEN-DISEASE
وصف الملف: application/pdf; pdf
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المؤلفون: Zu-cheng Xie, Yi-Wu Dang, Gang Chen, Huayu Wu
المصدر: Cancer Medicine, Vol 8, Iss 18, Pp 7623-7636 (2019)
Cancer Medicineمصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, KCTD7, Biology, lcsh:RC254-282, alternative splicing, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Databases, Genetic, Protein Interaction Mapping, Biomarkers, Tumor, medicine, Humans, Gene Regulatory Networks, Radiology, Nuclear Medicine and imaging, Protein Interaction Maps, prognostic signature, Gene, Original Research, Receiver operating characteristic, Proportional hazards model, Gene Expression Profiling, Alternative splicing, glioblastoma, Univariate, Computational Biology, Clinical Cancer Research, TCGA, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, medicine.disease, Survival Analysis, Gene Expression Regulation, Neoplastic, 030104 developmental biology, ROC Curve, 030220 oncology & carcinogenesis, RNA splicing, prognosis, Glioblastoma
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