المؤلفون: Li-Yun Guo, Xiao-Lin Fu, Min Hu, Zhou Yuan, Xiao-Fan Zhang, Jie Yin, Qin Zhu, Tai-Cheng Zhou, Wen-Hua Duan, Guang-Long Zhou, Xue-Jiao Li, Jie-Ying Zhang, Zhi-Juan Hua, Dongmei Yang

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)
Scientific Reports

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Mutation, Missense, lcsh:Medicine, Chromosomal translocation, medicine.disease_cause, Genetic analysis, Article, Young Adult, 03 medical and health sciences, Duane Retraction Syndrome, 0302 clinical medicine, Asian People, Chimerin 1, medicine, Humans, Missense mutation, Family, Child, lcsh:Science, Eye diseases, Gene, Exome sequencing, Genetics, Mutation, Multidisciplinary, biology, Disease genetics, Accession number (library science), lcsh:R, Middle Aged, Pedigree, 030104 developmental biology, 030221 ophthalmology & optometry, biology.protein, Female, lcsh:Q

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43463564c722620dc1f9507d1dd242c0Test
http://link.springer.com/article/10.1038/s41598-020-73190Test-1

المؤلفون: Rahul S. Desikan, Jennifer S. Yokoyama, Nicholas J. Schmansky, Daniel Cuneo, William P. Dillon, Chun Chieh Fan, Matthew J. Barkovich, Ryan M. Nillo, Yi Li, Bruce L. Miller, Celeste M. Karch, Chin Hong Tan, Christopher P. Hess, Nicholas T. Olney, Ole A. Andreassen, Luke W. Bonham, Iris J. Broce, Terry L. Jernigan, Christine M. Glastonbury, A. James Barkovich, Leo P. Sugrue, Anders M. Dale, Aimee W. Kao, Orit A. Glenn, Bruce Fischl

المصدر: Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)
Scientific reports, vol 8, iss 1
Scientific Reports
Li, Y; Barkovich, MJ; Karch, CM; Nillo, RM; Fan, CC; Broce, IJ; et al.(2018). Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex. Scientific Reports, 8(1). doi: 10.1038/s41598-018-31075-4. UCSF: Retrieved from: http://www.escholarship.org/uc/item/3m61c5mtTest
Li, Yi; Barkovich, Matthew J; Karch, Celeste M; Nillo, Ryan M; Fan, Chun-Chieh; Broce, Iris J; et al.(2018). Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex. Scientific Reports, 8(1). doi: 10.1038/s41598-018-31075-4. UCSF: UCSF Library. Retrieved from: http://www.escholarship.org/uc/item/4zk6w74dTest

مصطلحات موضوعية: 0301 basic medicine, Male, Cerebellum, Autism, lcsh:Medicine, Tuberous Sclerosis Complex 1 Protein, Tuberous sclerosis, 0302 clinical medicine, Neurodevelopmental disorder, Tuberous Sclerosis, Medicine and Health Sciences, 80 and over, 2.1 Biological and endogenous factors, Aetiology, Child, lcsh:Science, Cancer, Aged, 80 and over, Regulation of gene expression, Pediatric, education.field_of_study, Multidisciplinary, Life Sciences, Middle Aged, Gene Expression Regulation, Neoplastic, medicine.anatomical_structure, Mental Health, Child, Preschool, Neurological, Female, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Intellectual and Developmental Disabilities (IDD), Population, Biology, Article, 03 medical and health sciences, Rare Diseases, Clinical Research, Tuberous Sclerosis Complex 2 Protein, medicine, Genetics, Humans, education, Preschool, PI3K/AKT/mTOR pathway, Aged, Neoplastic, lcsh:R, Infant, Newborn, Neurosciences, Infant, medicine.disease, Newborn, Brain Disorders, nervous system diseases, 030104 developmental biology, Gene Expression Regulation, Neurodevelopmental Disorders, Cancer research, lcsh:Q, TSC1, TSC2, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c58087a886c9e4b80987e421701bd79Test
http://link.springer.com/article/10.1038/s41598-018-31075-4Test

المؤلفون: Seo Young Choi, Sang-Ho Kim, Seung-Han Lee, Hyo Jung Kim, Kwang-Dong Choi, Kyung-Pil Park, Hyang-Sook Kim, Dae-Seong Kim, Ji Soo Kim, Ileok Jung, Seong-Hae Jeong, Dong Uk Kim, Jae-Hwan Choi, Jin-Hong Shin

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
SCIENTIFIC REPORTS(7)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, DNA Mutational Analysis, lcsh:Medicine, CACNB4, medicine.disease_cause, 0302 clinical medicine, Child, lcsh:Science, Exome sequencing, Genetics, Mutation, Multidisciplinary, Middle Aged, Pedigree, Excitatory Amino Acid Transporter 1, Phenotype, Child, Preschool, Female, medicine.symptom, Adult, Adolescent, Ubiquitin-Protein Ligases, Biology, Article, 03 medical and health sciences, Young Adult, Republic of Korea, Exome Sequencing, medicine, Humans, Aged, Episodic ataxia, Cerebellar ataxia, Genetic heterogeneity, lcsh:R, medicine.disease, Cytoskeletal Proteins, 030104 developmental biology, biology.protein, Ataxia, Calmodulin-Binding Proteins, lcsh:Q, Calcium Channels, Kv1.1 Potassium Channel, 030217 neurology & neurosurgery, Biomarkers, Truncal ataxia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ead6df5e1f430599e747013afa45621Test
http://link.springer.com/article/10.1038/s41598-017-14254-7Test

المؤلفون: Wenjuan Liu, Xu Lin, Feng-Lin Chen, Xian-E Peng, Zhijian Hu

المصدر: Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Risk, medicine.medical_specialty, China, Adolescent, Population, 030209 endocrinology & metabolism, Single-nucleotide polymorphism, Biology, Gastroenterology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Asian People, Gene Frequency, Non-alcoholic Fatty Liver Disease, Internal medicine, Genotype, medicine, Ethnicity, Humans, Aspartate Aminotransferases, education, Allele frequency, Alleles, Aged, Genetics, Metabolic Syndrome, education.field_of_study, Multidisciplinary, Tea, Fatty liver, Alanine Transaminase, Odds ratio, Middle Aged, medicine.disease, 030104 developmental biology, Logistic Models, Socioeconomic Factors, Case-Control Studies, Lipogenesis, Female, Sterol Regulatory Element Binding Protein 1, Body mass index

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea003f1e11b8614608886ed51d66895bTest
http://europepmc.org/articles/PMC5004200Test