المؤلفون: Yuting Lou, Xinglei Shi, Guofa Su, Yufan Guo, Liuyan Gao, Ye Wang, Pu Miao, Jianhua Feng

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)

مصطلحات موضوعية: ACMG, CNKSR2, intellectual developmental, variant, X‐linked, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/895e750437aa4393a10099f8596f1cc3Test

المؤلفون: Higa, Leigh Ann, Wardley, Jennifer, Wardley, Christopher, Singh, Susan, Foster, Timothy, Shen, Joseph J

المصدر: BMC Medical Genomics. 14(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Neurosciences, Neurodegenerative, Intellectual and Developmental Disabilities (IDD), Pediatric, Clinical Research, Epilepsy, Aetiology, 2.1 Biological and endogenous factors, Neurological, Autism Spectrum Disorder, CNKSR2, CNK2, ESES, CSWS, Developmental delay, Medical Biochemistry and Metabolomics, Oncology and Carcinogenesis, Genetics & Heredity, Medical biochemistry and metabolomics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/68f912sxTest

المؤلفون: Yuefang Liu, Zhe Liang, Weili Cai, Qixiang Shao, Qiong Pan

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: TRIO, CNKSR2, RAC1, case report, neurodevelopmental disorders, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.948877/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/d250f16de7d5447e9d3949c4bf94e7b9Test

المؤلفون: Leigh Ann Higa, Jennifer Wardley, Christopher Wardley, Susan Singh, Timothy Foster, Joseph J. Shen

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-6 (2021)

مصطلحات موضوعية: CNKSR2, CNK2, Epilepsy, ESES, CSWS, Developmental delay, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/7415cdfca0b54279bea240a0f5c0088cTest

المؤلفون: Yi Zhang, Tingting Yu, Niu Li, Jiwen Wang, Jian Wang, Yihua Ge, Ruen Yao

المصدر: BMC Medical Genomics, Vol 13, Iss 1, Pp 1-5 (2020)

مصطلحات موضوعية: CNKSR2, Neurodevelopmental disorder, Splicing variant, Whole exome sequencing, Attention deficit, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/d2b5a1f104024cc6adfe38202f775bfcTest

المؤلفون: Hidenori Ito, Koh-ichi Nagata

المصدر: Cells; Volume 11; Issue 2; Pages: 303

مصطلحات موضوعية: CNKSR2, epilepsy, neurodevelopmental disorder, scaffold protein, disease

وصف الملف: application/pdf

العلاقة: Cells of the Nervous System; https://dx.doi.org/10.3390/cells11020303Test

الإتاحة: https://doi.org/10.3390/cells11020303Test

المؤلفون: Mei Daoqi, Chen Guohong, Wang Yuan, Yang Zhixiao, Xu Kaili, Mei Shiyue

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-5 (2020)

مصطلحات موضوعية: X-linked syndromic mental retardation, Intractable seizures, CNKSR2 gene, Exons deletion, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12881-020-01004-2Test; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/c494e588ef064565ad3141e863b9131cTest

المؤلفون: Leigh Ann Higa (11143141), Jennifer Wardley (11143144), Christopher Wardley (11143147), Susan Singh (11143150), Timothy Foster (38418), Joseph J. Shen (11143153)

مصطلحات موضوعية: Medicine, Genetics, Neuroscience, Physiology, Sociology, Computational Biology, CNKSR2, CNK2, Epilepsy, ESES, CSWS, Developmental delay

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_1_of_CNKSR2-related_neurodevelopmental_and_epilepsy_disorder_a_cohort_of_13_new_families_and_literature_review_indicating_a_predominance_of_loss_of_function_pathogenic_variants/14992969Test

الإتاحة: https://doi.org/10.6084/m9.figshare.14992969.v1Test

المؤلفون: Daniel L. Polla, Harriet R. Saunders, Bert B. A. deVries, Hans vanBokhoven, Arjan P. M. deBrouwer

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)

مصطلحات موضوعية: CNKSR2, de novo, exome sequencing, intellectual disability, X‐linked, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/5ee9dcf0681b434dab3ff066e6565c4eTest

المؤلفون: Diana David, Arun Surendran, Jissa V. Thulaseedharan, Asha S. Nair

المصدر: BMC Cancer, Vol 18, Iss 1, Pp 1-19 (2018)

مصطلحات موضوعية: Smurf2, CNKSR2, Ubiquitination, Breast cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12885-018-4188-xTest; https://doaj.org/toc/1471-2407Test

الوصول الحر: https://doaj.org/article/a5a9e478bbf347cbbbac09b44c879da3Test