المؤلفون: Haitian Nan, Yeon-Jeong Kim, Min Chu, Dan Li, Jieying Li, Deming Jiang, Yiming Wu, Toshihisa Ohtsuka, Liyong Wu

المصدر: Alzheimer’s Research & Therapy, Vol 16, Iss 1, Pp 1-24 (2024)

مصطلحات موضوعية: Frontotemporal dementia, Genetic spectrum, TBK1, OPTN, Autophagy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1758-9193Test

الوصول الحر: https://doaj.org/article/90adb931fafc4c478550548d8c52986bTest

المؤلفون: Liling Dong, Li Shang, Caiyan Liu, Chenhui Mao, Xinying Huang, Shanshan Chu, Bin Peng, Liying Cui, Jing Gao

المصدر: Italian Journal of Pediatrics, Vol 49, Iss 1, Pp 1-7 (2023)

مصطلحات موضوعية: Pediatric genetic white matter disorder, Genetic spectrum, ABCD1, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1824-7288Test

الوصول الحر: https://doaj.org/article/6546a4afb3884e79af4de74b9a80e4efTest

المؤلفون: Julia‐Palacios, Natalia Alexandra, Kuseyri Hübschmann, Oya, Olivella, Mireia, Pons, Roser, Horvath, Gabriella, Lücke, Thomas, Fung, Cheuk‐Wing, Wong, Suet‐Na, Cortès‐Saladelafont, Elisenda, Rovira‐Remisa, M. Mar, Yıldız, Yılmaz, Mercimek‐Andrews, Saadet, Assmann, Birgit, Stevanović, Galina, Manti, Filippo, Brennenstuhl, Heiko, Jung‐Klawitter, Sabine, Jeltsch, Kathrin, Sivri, H. Serap, Garbade, Sven F., García‐Cazorla, Àngels, Opladen, Thomas

المساهمون: Julia‐palacios, Natalia Alexandra, Kuseyri Hübschmann, Oya, Olivella, Mireia, Pons, Roser, Horvath, Gabriella, Lücke, Thoma, Fung, Cheuk‐wing, Wong, Suet‐na, Cortès‐saladelafont, Elisenda, Rovira‐remisa, M. Mar, Yıldız, Yılmaz, Mercimek‐andrews, Saadet, Assmann, Birgit, Stevanović, Galina, Manti, Filippo, Brennenstuhl, Heiko, Jung‐klawitter, Sabine, Jeltsch, Kathrin, Sivri, H. Serap, Garbade, Sven F., García‐cazorla, Àngel, Opladen, Thomas

مصطلحات موضوعية: SSADH deficiency, evolving phenotype, genetic spectrum, in silico analyse, long-term follow-up

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38499966; info:eu-repo/semantics/altIdentifier/wos/WOS:001186595000001; journal:JOURNAL OF INHERITED METABOLIC DISEASE; https://hdl.handle.net/11573/1707159Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85188475525

الإتاحة: https://doi.org/10.1002/jimd.12723Test
https://hdl.handle.net/11573/1707159Test

المؤلفون: Man-Kwan Yip, Elaine Yin-Wah Kwan, Jenny Yin-Yan Leung, Emmy Yuen-Fun Lau, Wing-Tat Poon

المصدر: Genes, Vol 14, Iss 11, p 2071 (2023)

مصطلحات موضوعية: familial hypercholesterolemia, genetic spectrum, cascade screening, LDLR gene, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/14/11/2071Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/49a0b4724a7c4251aba56de3e4c97322Test

المؤلفون: Yunting Lin, Xiaohong Chen, Bobo Xie, Zhihong Guan, Xiaodan Chen, Xiuzhen Li, Peng Yi, Rong Du, Huifen Mei, Li Liu, Wen Zhang, Chunhua Zeng

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: Wiedemann-Steiner syndrome, KMT2A gene, clinical characteristics, genetic spectrum, therapeutic effect, Chinese, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1085210/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/95dfcda6cdf842699d3002ebcc11ca75Test

المؤلفون: Weiyi Yu, Ji He, Xiangyi Liu, Jieying Wu, Xiying Cai, Yingshuang Zhang, Xiaoxuan Liu, Dongsheng Fan

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: hereditary spastic paraplegia, China, genetic spectrum, follow-up, heterogeneity, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1085442/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/898ef7808e44482e8544ce5f6ab853b0Test

المؤلفون: Shuaishuai Chen, Juping Du, Huihua Jiang, Weibo Zhao, Na Wang, Anna Ying, Jun Li, Shiyong Chen, Bo Shen, Yuanlin Zhou

المصدر: Frontiers in Molecular Neuroscience, Vol 15 (2022)

مصطلحات موضوعية: ataxia with oculomotor apraxia type 2, SETX gene, early-onset menopause, Whole-exome sequencing, clinical and genetic spectrum, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fnmol.2022.1019974/fullTest; https://doaj.org/toc/1662-5099Test

الوصول الحر: https://doaj.org/article/abe5c1fe3b2e40e483c47f3347b39964Test

المؤلفون: Yunting Lin, Zhihong Guan, Huifen Mei, Wen Zhang, Zhizi Zhou, Ling Su, Jing Cheng, Ruidan Zheng, Cuili Liang, Yanna Cai, Xi Yin, Dongyan Wu, Li Liu, Chunhua Zeng

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: vitamin D-dependent rickets type 1A, CYP27B1 gene, clinical characteristics, genetic spectrum, therapeutic effect, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2022.1007219/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/7482446293424e279c3c186c2d7bd356Test

المؤلفون: Jing Zhao, Kenneth D. R. Setchell, Ying Gong, Yinghua Sun, Ping Zhang, James E. Heubi, Lingjuan Fang, Yi Lu, Xinbao Xie, Jingyu Gong, Jian-She Wang

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: Bile acid synthesis, Chenodeoxycholic acid, Genetic spectrum, HSD3B7, Renal lesions, 3β-hydroxy-Δ5-C27-steroid oxidoreductase deficiency, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/5f7256cd653545d5b45ec79e65978242Test

المؤلفون: Hao-Ling Cheng, Ya-Ru Shao, Yi Dong, Hai-Lin Dong, Lu Yang, Yin Ma, Ying Shen, Zhi-Ying Wu

المصدر: Translational Neurodegeneration, Vol 10, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: Autosomal recessive cerebellar ataxias, Chinese, Genetic spectrum, Structural variation, Clinical features, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2047-9158Test

الوصول الحر: https://doaj.org/article/df429179095e44c8b13a668724c3a889Test