Novel compound heterozygous OBSCN variants in Chinese children with congenital pulmonary airway malformation by Jiali Xu, Siyu Ma, Zhaocong Yang, Yang Xu, Jirong Qi, Min Da, Xuming Mo

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Mitochondrial neurogastrointestinal encephalomyopathy in china: a novel TYMP variant and comprehensive clinical-genetic insights by Xuebi Xu, Junhui Xia, Fei Xu, Mingshan Wang, Lihong Yang, Xiaoli Chen

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Identification of Compound Heterozygous Variants in OBSCN Gene Associated With Rhabdomyolysis: A Case Report by Xiaolan Sun, Yong Chen, Jianmin Zhong, Hui Chen, Jihua Xie, Ruiyan Wang

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Novel compound heterozygous PIEZO1 variants in dehydrated hereditary stomatocytosis initially suspected as myelodysplastic syndromes: a case report by Yongcheng Sun, Tao Wang, Shuyan Wang, Yan Chen, Zhijuan Xu, Cong Shi, Zanzan Wang, Guifang Ouyang

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Detection of gene mutation in a case of Nagashima-type palmoplantar keratoderma by CAO Yuanyuan, YUAN Zhaojun, JIN Chuanyang, WANG Tianzi, LIAO Xiaojie, LIU Hong

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Phialophora americana infection in a patient with a compound heterozygous CARD9 mutation by Jie Wu, Yang Xiang, Fengming Li, Xiaodong Liu, Ningning Dang, Jing Guo

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Case report: Severe arrhythmogenic cardiomyopathy in a young girl with compound heterozygous DSG2 and MYBPC3 variants with a 6-year follow-up by Ryotaro Hashizume, Ryotaro Hashizume, Hiroshi Imai, Hiroshi Imai, Hiroyuki Ohashi, Hirofumi Sawada, Noriko Yodoya, Ryuji Okamoto, Kaoru Dohi, Chika Kasai, Takahito Kitajima, Takumi Fujiwara, Ikuyo Mochiki, Kaname Nakatani, Sachiko Wakita, Seiko Ohno, Koichi Kato, Yoshinaga Okugawa, Yoshihide Mitani, Masahiro Hirayama

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Identification of novel MYO19 variants in neonatal hypertrophic cardiomyopathy: a familial analysis revealing oligogenic contributors to disease severity by Hye-Won Cho, Hyeseon Kim, Jeong-Min Kim, Dong Mun Shin, Oc-Hee Kim, Misun Yang, Heui Seung Jo, Mi-Ae Jang, Ja-Hyun Jang, Hyun-Young Park, Yun Sil Chang, Mi-Hyun Park

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Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population by Yingming Xing, Lingqian Zhao, Renlong Zhao, Qiyun Liu, Juan Wang, Le Wang, Wei Zhang, Junhong Guo, Rongjuan Zhao, Xueli Chang

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Severe clinical phenotype caused by the <italic>COL4A5</italic> compound heterozygous variation in a female patient with X-linked dominant inheritance Alport syndrome： a case repor... by Zhang Hong-wen

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Antisense oligonucleotide therapy for patients with Friedreich’s ataxia carrying the c.165+5G>C splicing mutation by Pouiré Yameogo, Selina Aguilar, Thazha P. Prakash, Frank Rigo, David R. Lynch, Jill S. Napierala, Marek Napierala

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Diagnosis of a patient with severe sensorineural hearing loss as the initial symptom caused by novel compound heterozygous variant in SLC19A2 gene by Yanan Shi, Junyang Li, Xiaoqin Chen, Niu Li, Sijie Yang, Youjin Li, Min Zhou

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Identification of a compound heterozygous mutation in GDAP1 gene in a consanguineous South Indian family with Charcot–Marie–Tooth (CMT) Disease by Laxmi Kirola, Deepika Joshi, Souradip Chatterjee, Madhusudan Tapadia, Ashim Mukherjee, Mousumi Mutsuddi

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Unraveling the pathogenicity role of the novel compound heterozygous mutations of MED25 gene in a Chinese patient with BVSYS by Linbing Zou, Ruikang Qiu, Zhijun Dai, Yulei Li, Yunjiao Liao, Yan Zhou

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