المؤلفون: Haiming Yuan, Qingming Wang, Xiumei Zeng, Peiqing He, Wanfang Xu, Hongmei Guo, Yanhui Liu, Yangyang Lin

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: KLHL40, Nemaline myopathy, Polyhydramnios, Fetal akinesia, Respiratory failure, Carrier screening, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/4598ef6e0e2a477cb4372aedb3b12794

المؤلفون: Youqing Fu, Wanfang Xu, Qingming Wang, Yangyang Lin, Peiqing He, Yanhui Liu, Haiming Yuan

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: Mowat-Wilson syndrome, ZEB2, epilepsy, hirschsprung disease, happy demeanor, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.853183/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/5ff2400927254d0dac5a95e63c16bc11

المؤلفون: Yanhui Liu, Hailiang Liu, Yi He, Wanfang Xu, Qiulin Ma, Yuzhen He, Wei Lei, Guoquan Chen, Zheng He, Jiayi Huang, Jianan Liu, Yuanru Liu, Quanfei Huang, Fubing Yu

المصدر: Human Genomics, Vol 14, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: Non-invasive prenatal testing (NIPT), First-tier screening test, Positive predictive value (PPV), Sex chromosome aneuploidy, Advanced maternal age (AMA), Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40246-020-00268-2; https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/6b38f9a9737b4039863e04a5a421f337

المؤلفون: Haiming Yuan, Huihua Yuan, Qingming Wang, Wanhua Ye, Ruixia Yao, Wanfang Xu, Yanhui Liu

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)

مصطلحات موضوعية: episodic ataxia type 1, KCNA1, low‐level mosaicism, neurodevelopmental disorder, seizures, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/d8d2a81e348c420193607c55a1f31fe1

المؤلفون: Jiwu Lou, Manna Sun, Ying Zhao, Zhisong Ji, Fenghua Liu, Dongzhi Li, Wanfang Xu, Yangyang Lin, Yanhui Liu

المصدر: PLoS ONE, Vol 12, Iss 2, p e0171886 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5328249?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/f32f329d637b4ece90de92e59dbcb739

المؤلفون: Wanfang Xu, Gang Xu, Haitao Yuan

المصدر: 2014 China International Conference on Electricity Distribution (CICED) Electricity Distribution (CICED), 2014 China International Conference on. :706-710 Sep, 2014

Relation: 2014 China International Conference on Electricity Distribution (CICED)

المؤلفون: Youqing, Fu, Wanfang, Xu, Qingming, Wang, Yangyang, Lin, Peiqing, He, Yanhui, Liu, Haiming, Yuan

المصدر: Frontiers in genetics. 13

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::0054b99ffd84b3223eed3e16e9d1d0a8
https://pubmed.ncbi.nlm.nih.gov/35646055

المؤلفون: Kun, Wang, Yanhui, Liu, Baohua, Zhu, Rungui, Xie, Xiaoyan, Zhang, Shundi, Wei, Yi, He, Wanfang, Xu, Yangyang, Lin

المصدر: In Journal of Medical Colleges of PLA April 2012 27(2):71-79

المؤلفون: Ruixia Yao, Wanfang Xu, Huihua Yuan, Yanhui Liu, Wanhua Ye, Qingming Wang, Haiming Yuan

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: Male, 0301 basic medicine, Ataxia, lcsh:QH426-470, Developmental Disabilities, Genetic counseling, Mutation, Missense, 030105 genetics & heredity, medicine.disease_cause, low‐level mosaicism, 03 medical and health sciences, Neurodevelopmental disorder, Protein Domains, Genetics, medicine, Humans, Missense mutation, Myokymia, Sibling, Molecular Biology, Genetics (clinical), seizures, Episodic ataxia, Mutation, Mosaicism, business.industry, Infant, Original Articles, medicine.disease, neurodevelopmental disorder, lcsh:Genetics, Phenotype, 030104 developmental biology, episodic ataxia type 1, KCNA1, Child, Preschool, Original Article, Female, medicine.symptom, Kv1.1 Potassium Channel, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4af54fb31e00f29a39aa41241949f5ec
https://doaj.org/article/d8d2a81e348c420193607c55a1f31fe1

المؤلفون: Haiming Yuan, Wanfang Xu, Yanhui Liu, Qingming Wang

المصدر: Journal of molecular neuroscience : MN. 71(3)

مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Short stature, 03 medical and health sciences, Cellular and Molecular Neuroscience, Exon, 0302 clinical medicine, medicine, Attention deficit hyperactivity disorder, Humans, EP300, Zinc finger, Genetics, Rubinstein-Taybi Syndrome, Rubinstein–Taybi syndrome, business.industry, General Medicine, medicine.disease, Phenotype, CREB-Binding Protein, 030104 developmental biology, Child, Preschool, Female, medicine.symptom, business, 030217 neurology & neurosurgery, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6646ee4c8b78b16b548495a2129df28
https://pubmed.ncbi.nlm.nih.gov/32839936