[Experience with stem cell collection for children with Transfusion-dependent thalassemia undergoing gene therapy] [0.03%]
地中海贫血干细胞采集的经验
Meiping Liu,Yueyue Liang,Wenyan Long et al.
Meiping Liu et al.
Objective: To explore the characteristics and strategies of stem cell collection in children with Transfusion-dependent thalassemia (TDT) undergoing gene therapy. ...
[Clinical characterization and genetic analysis of two Chinese pedigrees affected with Familial adenomatous polyposis caused by variants of MUTYH gene] [0.03%]
中国MUTYH基因变异导致的家族性腺瘤性息肉病2个家系的临床特征及遗传分析
Long Zhang,Yuhou Shen,Hualing Duan et al.
Long Zhang et al.
Objective: To explore the clinical phenotypes and genetic characteristics of two patients with Familial adenomatous polyposis (FAP) due to variants of MUTYH gene. ...
[Analysis of a child with Oculocutaneous albinism due to compound heterozygous variants of OCA2 gene] [0.03%]
OCA2复合杂合突变所致眼球皮肤白化病1例分析
Shuqi Zheng,Xiangyu Zhao,Kai Liu et al.
Shuqi Zheng et al.
Objective: To explore the genetic etiology of a child with Oculocutaneous albinism (OCA). Methods: A child diagnosed with OCA at Linyi ...
[Clinical features and genetic analysis of a child with Progressive familial intrahepatic cholestasis type 5 due to variant of NR1H4 gene] [0.03%]
NR1H4基因突变导致的胆道疾病的临床特征和遗传分析
Mengjun Dong,Zhiyi Xia,Suli Li et al.
Mengjun Dong et al.
Objective: To explore the clinical, genetic, treatment and prognostic characteristics of progressive familial intrahepatic cholestasis type 5 (PFIC5). Met...
[Clinical characteristics and genetic analysis of a child with Coffin-Siris syndrome type 8 due to an intronic variant of SMARCC2 gene] [0.03%]
SMARCC2基因内含子变异所致Kleinfelter型Coffin-Siris综合征1例临床表型分析
Shiling Zhong,Yunyan Li,Yuanling Chen et al.
Shiling Zhong et al.
Objective: To explore the clinical phenotype and genetic characteristics of a child with Coffin-Siris syndrome type 8 (CSS8) due to an intronic variant of the SMARCC2 gene. ...
[Genetic analysis of a fetus with renal dysplasia/hypoplasia due to a variant of GREB1L gene and literature review] [0.03%]
GREB1L基因变异致胎儿肾发育不全/肾发育不良的遗传分析及文献复习
Danning Ma,Shunfei Ma,Xiangyu Liu et al.
Danning Ma et al.
Objective: To carry out clinical and genetic analysis for a fetus with absent kidneys and bladder. Methods: Clinical data of the fetus ...
[Analysis of PI4KA gene variants in a patient with Hereditary spastic paraplegia type 84] [0.03%]
HEREDITARY SPASTIC PARAPLEGIA 84患者的PI4KA基因变异分析
Kang Zhang,Jing Nan,Sheng Tian et al.
Kang Zhang et al.
Objective: To investigate the clinical and genetic characteristics of a patient with hereditary Spastic paraplegia type 84 (SPG84) due to compound heterozygous variants of the PI4KA gene. ...
[Clinical and genetic analysis of a Chinese pedigree affected with Charcot-Marie-Tooth disease presenting as childhood-onset encephalopathy] [0.03%]
中国Charcot-Marie-Tooth病家系的临床和基因分析公告：以儿童期起病脑病为表现形式
Haitong Zheng,Binglong Huang,Yinhui Chen et al.
Haitong Zheng et al.
Objective: To explore the clinical phenotypes and genetic characteristics of a Chinese pedigree affected with X-linked Charcot-Marie-Tooth disease (CMTX) with childhood-onset episodic encephalopathy as the initial manifes...
[Prenatal diagnosis and genetic analysis of 13 fetuses with 16p11.2 microdeletion/microduplication] [0.03%]
[16p11.2微缺失/微重复综合征的产前诊断和遗传学分析(13例报道)]
Xiaoduan Wang,Kai Zhang,Jiashan Li et al.
Xiaoduan Wang et al.
Objective: To explore the ultrasound finding, pregnancy outcome, and follow-up of fetuses with 16p11.2 microdeletion/microduplication to provide a basis for genetic counseling. ...
[Clinical and genetic analysis of four Chinese pedigrees affected with NAA15-related intellectual developmental disorder] [0.03%]
NAA15相关智能发育障碍4例中国家系的临床和遗传特征分析
Xiaoyan Xuan,Jian Tang,Xiaoke Zhao
Xiaoyan Xuan
Objective: To elucidate the clinical phenotype and molecular genetic characteristics of intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities (MRD50) due to variants of NAA15 gene. ...