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MeSH:(Intellectual Disability/diagnosis/*genetics)

1.Fragile site X chromosomes in mentally retarded boys.

Hyung Ro MOON ; Shin Yong MOON

Journal of Korean Medical Science 1993;8(3):192-196

2.Etiology and diagnosis of intellectual disability.

Pu YANG ; Bao-Heng GUI ; Ling-Qian WU

Chinese Journal of Contemporary Pediatrics 2015;17(6):543-548

3.Prenatal diagnosis and genetic analysis of a rare case with 8p deletion and duplication.

Xinying CHEN ; Hanbin PAN ; Shuhong ZENG ; Yuying JIANG ; Yuanbai WANG ; Jianlong ZHUANG

Chinese Journal of Medical Genetics 2023;40(1):96-100

4.Analysis and prenatal diagnosis of FMR1 gene mutations among patients with unexplained mental retardation.

Shikun LUO ; Wenbin HE ; Yi LIAO ; Weilin TANG ; Xiurong LI ; Liang HU ; Juan DU ; Qianjun ZHANG ; Yueqiu TAN ; Ge LIN ; Wen LI

Chinese Journal of Medical Genetics 2021;38(5):439-445

5.Autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations: a report of 8 cases and literature review.

Xiao-Le WANG ; Ya-Nan TIAN ; Chen CHEN ; Jing PENG

Chinese Journal of Contemporary Pediatrics 2023;25(5):489-496

6.Clinical and genetic study of a case with Smith-Magenis syndrome.

Li-xiao SHEN ; Jin-song ZHANG ; Xing JI ; Ya XING ; Juan HU ; Jiong TAO ; Bing XIAO

Chinese Journal of Pediatrics 2012;50(3):227-230

7.Detection of the genetic abnormalities in patients with mental retardation using multiplex ligation-dependent probe amplification assay.

Lina ZHU ; Chunzhi WANG ; Xiao YANG ; Yan WANG ; Xin LIU ; Xiyu HE

Chinese Journal of Medical Genetics 2009;26(6):644-647

8.Analysis of clinical features and ATRX gene variants in a Chinese pedigree affected with X-linked alpha thalassemia mental retardation (ATR-X) syndrome.

Rui DONG ; Yali YANG ; Hui GUO ; Min GAO ; Yuqiang LYU ; Yue LI ; Xiaomeng YANG ; Yi LIU

Chinese Journal of Medical Genetics 2023;40(12):1508-1511

9.Genetic analysis of two children with Coffin-Siris syndrome due to variants of ARID1B gene.

Zhi LI ; Fang LIU ; Ruihua WAN ; Yuanyuan WU ; Jun LIU

Chinese Journal of Medical Genetics 2024;41(1):67-74

10.Array comparative genomic hybridization detection of a de novo 4q21.21-q22.1 deletion in a child with severe growth retardation.

Jing ZHOU ; Ping HU ; An LIU ; Li LI ; Xiuqing JI ; Weirong HUI ; Yan WANG ; Zhengfeng XU

Chinese Journal of Medical Genetics 2014;31(1):52-55

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