Wenjing Yuan,Qianqian Chen,Jiajin Lin
Wenjing Yuan
Objective: To explore the molecular basis for an individual with a rare variant of Bw37 phenotype. Methods: Tube agglutination testing ...
[Mosaic trisomy 20: discrepancy between cyto-and molecular genetic technologies in prenatal diagnosis] [0.03%]
[20号染色体嵌合性三体型的细胞遗传学与分子遗传学技术不符导致的产前诊断争议]
Chunyan Jin,Tianhui Xu,Jiao Chen et al.
Chunyan Jin et al.
Objective: To provide genetic counseling and prenatal diagnosis for a fetus with mosaic trisomy 20. Methods: Chromosomal karyotyping, c...
[Prenatal screening and diagnosis for a fetus with mosaic sex chromosome abnormality] [0.03%]
胎儿性染色体嵌合体的产前筛查与诊断
Liyun Feng,Yuanqing Guo,Haixia Ma et al.
Liyun Feng et al.
Objective: To carry out prenatal screening and diagnosis for a woman with advanced maternal age. Methods: Non-invasive prenatal testing...
[Genetic analysis of a child with XYY syndrome in conjunct with 3-methylglutaenedioic aciduria type I] [0.03%]
[XYY综合征合并3-甲基巴抗酸尿症Ⅰ型家系的基因分析]
Xinli Zhang,Guosong Shen,Liming Pan et al.
Xinli Zhang et al.
Objective: To explore the genetic basis for a child with mental retardation. Methods: The child was subjected to chromosomal microarray...
[Oocyte maturation arrest due to compound heterozygous variants of the PATL2 gene in a case] [0.03%]
PATL2复合杂合变异导致的卵母细胞成熟阻滞1例报告
Qinghua Lei,Jiufeng Li,Xianqiong Zhou et al.
Qinghua Lei et al.
Objective: To explore the genetic etiology of a patient with primary infertility and repeated failure of assisted reproductive technology. Methods: ...
[Genetic analysis of novel MKKS variants in a Chinese patient with Bardet-Biedl syndrome] [0.03%]
中国Bardet-Biedl综合征患者MKKS新变异位点的基因分析
Hao Li,Zhangxue Hu
Hao Li
Objective: To explore the genetic basis of a Chinese patient with Bardet-Biedl syndrome (BBS). Methods: Clinical data of the patient wa...
[Analysis of PRX gene variants in a child with Charcot-Marie-Tooth disease type 4F] [0.03%]
[遗传变异PRX基因的患儿四肢远端肌力弱面容苍老发际线异常综合征型4F肯尼迪病发病机制研究]
Yanan Yang,Shuxin Ye,Yuqiang Lyu et al.
Yanan Yang et al.
Objective: To explore the genetic etiology of a child suspected for peroneal muscular atrophy. Methods: The child and his parents were ...
[Analysis of a child with severe combined immunodeficiency due to variants of DCLRE1C gene] [0.03%]
DCRLE1C基因变异所致严重联合免疫缺陷病1例分析
Xiaowei Xu,Dandan Yan,Jing Yin et al.
Xiaowei Xu et al.
Objective: To explore the genetic etiology of a child with severe combined immunodeficiency (SCID). Methods: Whole exome sequencing (WE...
[Clinical features and genetic variants of a case with carnitine palmitoyltransferase 1A deficiency] [0.03%]
肉碱棕榈酰转移酶Ⅰ缺乏症一例的临床及基因型分析
Dongyang Hong,Yanyun Wang,Yun Sun et al.
Dongyang Hong et al.
Objective: To identify the possible pathogenesis of a neonate with carnitine palmitoyltransferase 1A (CPT1A) deficiency by analyzing gene variants. Method...
[Ultrasonographic manifestation and genetic analysis of a fetus with Stickler syndrome] [0.03%]
Stickler综合征胎儿的超声表现及基因分析
Xiaohua Fang,Chaofeng Zhu,Xiangdong Kong et al.
Xiaohua Fang et al.
Objective: To carry out genetic analysis for a family with a fetus manifesting micrognathia and a previous history for fetal micromandibular deformity. Me...