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A case of Costello syndrome diagnosed by extremely rapid whole genome sequencing
A case of Costello syndrome diagnosed by extremely rapid whole genome sequencing
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A case of Costello syndrome diagnosed by extremely rapid whole genome sequencing

Zhang, P ; Zhang, R ; Zhang, L ; Lu, Y L ; Li, G ; Ni, Q ; Qian, L L ; Wang, H J ; Zhou, W H ; Wu, B B

Zhonghua er ke za zhi, 2022-02, Vol.60 (2), p.139

China

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2
Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome
Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome
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Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome

Zhao, Dengzhi ; Chu, Yan ; Yang, Ke ; Huo, Xiaodong ; Lei, Xingxing ; Yang, Yanli ; Zhang, Chaoyang ; Xiao, Hai ; Liao, Shixiu

Zhonghua yi xue yi chuan xue za zhi, 2023-01, Vol.40 (1), p.21

China

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3
Genetic analysis of two children with Coffin-Siris syndrome due to variants of ARID1B gene
Genetic analysis of two children with Coffin-Siris syndrome due to variants of ARID1B gene
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Genetic analysis of two children with Coffin-Siris syndrome due to variants of ARID1B gene

Li, Zhi ; Liu, Fang ; Wan, Ruihua ; Wu, Yuanyuan ; Liu, Jun

Zhonghua yi xue yi chuan xue za zhi, 2024-01, Vol.41 (1), p.67

China

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4
Prenatal diagnosis of Joubert syndrome:one case report and literature review
Prenatal diagnosis of Joubert syndrome:one case report and literature review
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Prenatal diagnosis of Joubert syndrome:one case report and literature review

Wen, Hong ; Chen, Lu ; Yan, Kai ; He, Jing

Zhejiang da xue xue bao. Journal of Zhejiang University. Medical sciences. Yi xue ban, 2017-05, Vol.46 (3), p.274-278

China

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5
Unusual facies with delayed development and multiple malformations in a 14-month-old boy
Unusual facies with delayed development and multiple malformations in a 14-month-old boy
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Unusual facies with delayed development and multiple malformations in a 14-month-old boy

Lu, Tong ; Wang, Yi

Zhongguo dang dai er ke za zhi, 2017-08, Vol.19 (8), p.921-925

China

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6
Prenatal diagnosis and pregnancy outcomes of 22q11.2 duplication syndrome: analysis of 8 cases
Prenatal diagnosis and pregnancy outcomes of 22q11.2 duplication syndrome: analysis of 8 cases
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Prenatal diagnosis and pregnancy outcomes of 22q11.2 duplication syndrome: analysis of 8 cases

Mei, Jin ; Liu, Jiao ; Wang, Min ; Zhang, Wen ; Wang, Hao ; Lu, Sha ; He, Chaying ; Jin, Chunlei

Zhejiang da xue xue bao. Journal of Zhejiang University. Medical sciences. Yi xue ban, 2019-06, Vol.48 (4), p.429

China

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7
Diagnosis and treatment of 3-hydroxyisobutyryl-CoA hydrolase deficiency: a case report and literature review
Diagnosis and treatment of 3-hydroxyisobutyryl-CoA hydrolase deficiency: a case report and literature review
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Diagnosis and treatment of 3-hydroxyisobutyryl-CoA hydrolase deficiency: a case report and literature review

Yang, Hai-Yan ; Wu, Li-Wen ; Deng, Xiao-Lu ; Yin, Fei ; Yang, Li-Fen

Zhongguo dang dai er ke za zhi, 2018-08, Vol.20 (8), p.647-651

China

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8
A case of partial deletion of the long arm of chromosome 7
A case of partial deletion of the long arm of chromosome 7
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A case of partial deletion of the long arm of chromosome 7

Yang, Lin ; Cheng, Ying ; Lin, Qian ; Zhang, Hong

Zhong nan da xue xue bao. Journal of Central South University. Yi xue ban, 2017-05, Vol.42 (5), p.588-590

China

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9
Analysis of clinical diagnosis and treatment in patients with microtia in Klippel-Feil syndrome
Analysis of clinical diagnosis and treatment in patients with microtia in Klippel-Feil syndrome
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Analysis of clinical diagnosis and treatment in patients with microtia in Klippel-Feil syndrome

Yang, Jinxiu ; He, Leren ; Jiang, Haiyue ; Wang, Yongzhen ; Zhang, Ye

Zhonghua zheng xing wai ke za zhi = Zhonghua zhengxing waike zazhi = Chinese journal of plastic surgery, 2017-03, Vol.33 (2), p.91

China

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10
3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review
3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review
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3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review

Zhu, Hongmin ; Bao, Xinhua ; Zhang, Yao

Zhonghua er ke za zhi, 2015-08, Vol.53 (8), p.626

China

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