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MeSH:(Williams Syndrome/genetics)

1.Genotype and phenotype analysis of two patients with Williams syndrome.

Haiyan ZHU ; Chunyan JI ; Hairong ZHANG

Chinese Journal of Medical Genetics 2016;33(1):68-70

2.Detection of microdeletion in Williams syndrome by multiplex ligation-dependent probe amplification.

Yuan-yuan PENG ; Yan MENG ; Zheng-qing QIU ; Ou WANG ; Shang-zhi HUANG

Chinese Journal of Medical Genetics 2009;26(4):369-373

3.Clinical features and genetic analysis of two children with Williams-Beuren syndrome.

Mingzhu HUANG ; Lingling XU ; Xiaoyuan CHEN ; Linghua DONG ; Liyan MA ; Jinhai MA

Chinese Journal of Medical Genetics 2023;40(7):828-832

4.Application of single nucleotide polymorphism-array for the diagnosis of Williams-Beuren syndrome in a case.

Jiao LI ; Juan DU ; Huayu FU ; Jin WANG ; Zhou YU

Chinese Journal of Medical Genetics 2016;33(4):505-507

5.Genetic and prenatal diagnosis for four families with Williams-Beuren syndrome.

Yang LIU ; Zhi-Yong XU ; Wei-Qing WU ; Fu-Wei LUO ; Jian-Sheng XIE

Chinese Journal of Contemporary Pediatrics 2015;17(12):1267-1272

6.Genetic analysis of a child with atypical Williams-Beuren syndrome presenting as supravalvular aortic stenosis.

Dong WU ; Mengting ZHANG ; Yue GAO ; Xiaodong HUO ; Hai XIAO ; Qian ZHANG ; Bing KANG ; Xin WANG ; Shixiu LIAO

Chinese Journal of Medical Genetics 2020;37(4):475-478

7.Comparing Two Diagnostic Laboratory Tests for Several Microdeletions Causing Mental Retardation Syndromes: Multiplex Ligation-Dependent Amplification vs Fluorescent In Situ Hybridization.

Eun Hae CHO ; Bo Ya Na PARK ; Jung Hee CHO ; You Sun KANG

The Korean Journal of Laboratory Medicine 2009;29(1):71-76

8.Diagnosis of a case with Williams-Beuren syndrome by single nucleotide polymorphism array.

Yuxia JIN ; Xia LIU ; Suping LI ; Jiamei GE ; Xiufang WU ; Qinhao SONG ; Chiyan ZHOU ; Zhengyou MIAO

Chinese Journal of Medical Genetics 2015;32(4):529-532

9.A clinical and molecular cytogenetic study of Filipino patients with williams syndrome

Abarquez Conchita G. ; Cutiongco- de la Paz Eva Maria

Acta Medica Philippina 2011;45(4):46-52

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