whole-exomesequencing相关论文
目的:对1例癫痫伴全面性发育落后患儿的临床特征及n ZBTB18基因变异进行分析，明确其可能的致病原因，为临床诊断提供依据。n ......
目的:探讨1个线粒体DNA耗竭综合征8A型家系的临床特点和致病基因。方法:对患儿进行全外显子测序筛查潜在的基因变异，Sanger测序进行......
Bi-allelic mutations in DNAH7 cause asthenozoospermia by impairing the integrality of axoneme struct
Asthenozoospermia is the most common cause of male infertility.Dynein protein arms play a crucial role in the motility o......
Early-onset epilepsy is a neurological abnormality in childhood,and it is especially common in the first 2 years after b......
Whole exome-sequencing reveals PHEX mutation associated with ossification of the posterior longitudi
Ossification of the posterior longitudinal ligament of the spine (OPLL) is characterized by ectopic bone formation in th......
Genitourinary Tumor:the mutational landscapes of adrenal cortex aldosterone-producing adenoma divers
Objective: The genetic determinants of aldosterone-producing adrenal adenoma (APA),one of the most common causes of seco......
Whole-exome sequencing characterizes the landscape of somatic mutations and copy number variations i
Background: Testicular germ cell tumor (TGCT) is the most common malignancy among young men.We conduct this study in ord......
Objective: The genetic determinants of aldosterone producing adrenal adenoma(APA),one of the most common causes of secon......
Whole-exome sequencing characterizes the landscape of somatic mutations and copy number variations i
Objective: Testicular germ cell tumor(TGCT)is the most common malignancy among young men.We conduct this study in order ......
A novel TEX11 mutation induces azoospermia: a case report of infertile brothers and literature revie
Background Testis-expressed gene 11 (TEX11) is an X-linked gene and essential for meiotic recombination and chromosomal ......
Identification of a Novel Compound Heterozygous Mutation in OTOG in a Chinese Family with Severe Hea
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Novel HMGCS2 pathogenic variants in a Chinese family with mitochondrial 3-hydroxy-3-methylglutaryl-C
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Compound heterozygous variants in POR gene identified by whole-exome sequencing in a Chinese pedigre
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Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myo
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Identification of potential pathogenic mutations in Chinese children with first branchial cleft anom
Importance::First branchial cleft anomalies (FBCAs) are rare congenital malformations, accounting for < 8% of all branch......
A truncated protein product of the germline variant of the DUOX2 gene leads to adenomatous polyposis
Objective: In some patients with adenomatous polyposis, an identifiable pathogenic variant of known associated genes can......
Mutations in DNAH8 contribute to multiple morphological abnormalities of sperm flagella and male inf
Asthenoteratospermia is an important cause of male infertility.Here,we report two infertile patients with severe astheno......
