المؤلفون: Liu, He^{Aff1, Aff2}, Liu, Fuqiang^{Aff2, Aff3, Aff4, Aff5}, Wei, Zichun, Liu, Pan, Liu, Qiao, Chen, Li^{Aff2, Aff3, Aff4, Aff5, IDs12020023036141_cor6}, Hou, Xinguo^{Aff2, Aff3, Aff4, Aff5, IDs12020023036141_cor7}

المصدر: Endocrine: International Journal of Basic and Clinical Endocrinology. 84(1):253-264

المؤلفون: Yanan Wang, Yujie Chang, Mingya Gao, Weiwei Zang, Xiaofei Liu

المصدر: Hereditas, Vol 161, Iss 1, Pp 1-8 (2024)

مصطلحات موضوعية: Albinism, OCA2 gene, De novo mutation, Compound heterozygous mutations, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1601-5223

URL الوصول: https://doaj.org/article/60803439f179428a9d9b0b4b7fb3c576

المؤلفون: Mou, Wenjun, Yang, Zixin, Wang, Xiaojiao, Hei, Mingyan^{Aff2, IDs00251023013095_cor4}, Wang, Yajuan^{Aff3, IDs00251023013095_cor5}, Gui, Jingang^{Aff1, IDs00251023013095_cor6}

المصدر: Immunogenetics. 75(4):385-393

المؤلفون: Chaoxin Tao, Min Zhao, Xiaohui Zhang, Jihong Hao, Qiuyue Huo, Jie Sun, Jiangtao Xing, Yuna Zhang, Jianhong Zhao, Huaipeng Huang

المصدر: BMC Infectious Diseases, Vol 24, Iss 1, Pp 1-8 (2024)

مصطلحات موضوعية: Niemann-pick disease, Compound heterozygous mutations, NPC1 gene, Novel mutation, Case report, Infectious and parasitic diseases, RC109-216

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2334

URL الوصول: https://doaj.org/article/5a4380d4ce4a43f7b6d392b830351422

المؤلفون: Wang, Yanan^{Aff1, IDs41065024003124_cor1}, Chang, Yujie, Gao, Mingya, Zang, Weiwei, Liu, Xiaofei

المصدر: Hereditas. 161(1)

المؤلفون: Tao, Chaoxin, Zhao, Min, Zhang, Xiaohui, Hao, Jihong, Huo, Qiuyue, Sun, Jie, Xing, Jiangtao, Zhang, Yuna, Zhao, Jianhong^{Aff2, IDs12879024090255_cor9}, Huang, Huaipeng^{Aff1, IDs12879024090255_cor10}

المصدر: BMC Infectious Diseases. 24(1)

المؤلفون: Sijia Zhu, Dongxue Ding, Jianhua Jiang, Meirong Liu, Liqiang Yu, Qi Fang

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: glutaric aciduria type II, ETFDH, compound heterozygous mutations, functional analysis, ACMG, riboflavin supplement, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1087421/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/3ac317bfea234c1b9af43cd6186baf16

المؤلفون: Mou, Wenjun, Gao, Liwei^{Aff2, Aff3}, He, Jianxin^{Aff2, Aff3}, Yin, Ju^{Aff2, Aff3}, Xu, Baoping^{Aff2, Aff3}, Gui, Jingang^Aff1

المصدر: Immunogenetics. 73(6):425-434

المؤلفون: Manhua Xu, Kaiming Li, Weimin He

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Microspherophakia, LTBP2, Compound heterozygous mutations, Ectopia lentis, Secondary glaucoma, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/4165b153d1614a2fb262762b1933bd48

المؤلفون: Bing-lei Wang, Fen-lei Lu, Yu-chen Sun, Hui-juan Wang

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: metachromatic leukodystrophy (MLD), autosomal recessive inherited, arylsulfatase A (ARSA), compound heterozygous mutations, case report, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.1011019/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/8a72425146cc4cce967b600ac7af6431