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D S Liang

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Articles 38
Citations 86
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Recent Articles
1.
Liu Y, You Y, Li Z, Liang D, Wu L
Zhonghua Yi Xue Za Zhi . 2025 Feb; 105(6):416-420. PMID: 39938979
High-throughput sequencing technology is playing an increasingly important role in the prevention and control of hereditary birth defects. Among these technologies based on next-generation sequencing (NGS), non-invasive prenatal testing (NIPT),...
2.
He R, Dong H, Zhang H, Zhang Y, Kang L, Li H, et al.
Zhonghua Er Ke Za Zhi . 2021 Jun; 59(6):459-465. PMID: 34102818
To analyze the clinical features, genetic characteristics, treatment and follow-up results of patients with hydrocephalus caused by methylmalonic acidemia combined with homocysteinuria, and to discuss the optimal strategies for assessing...
3.
Kang L, Liu Y, Shen M, Chen Z, Song J, He R, et al.
Zhonghua Er Ke Za Zhi . 2020 Jun; 58(6):468-475. PMID: 32521958
To summarize the clinical and genetic characteristics of the patients with isolated methylmalonic acidemia and investigate the strategies for the diagnosis, treatment and prevention. Three hundred and fourteen patients (180...
4.
Xue J, Tan B, Gao Q, Zhu G, Liang D, Wu L
Genet Mol Res . 2015 Dec; 14(4):15779-82. PMID: 26634545
This study aimed to identify the disease-causing mutation in the ectodysplasin A (EDA) gene in a Chinese family affected by X-linked hypohidrotic ectodermal dysplasia (XLHED). A family clinically diagnosed with...
5.
Fang C, Xue J, Tan L, Jiang C, Gao Q, Liang D, et al.
Genet Mol Res . 2011 Dec; 10(4):3539-44. PMID: 22194205
We identified a disease-causing mutation of the RUNX2 gene in a four-generation Chinese family affected with cleidocranial dysplasia (CCD). For mutation analysis, the coding region of RUNX2 was sequenced with...
6.
Wu L, Hu J, Xue J, Liang D
Genet Mol Res . 2011 Oct; 10(4):2517-22. PMID: 22009864
Congenital nephrotic syndrome of the Finnish type (CNF) is a lethal, autosomal recessive disorder mainly caused by mutations in the NPHS1 gene; it is found at a relatively high frequency...
7.
Liu X, Ling J, Xiong H, Shi X, Sun X, Pan Q, et al.
J Eur Acad Dermatol Venereol . 2009 May; 23(9):1079-82. PMID: 19470048
Diffuse palmoplantar keratoderma (DPPK) is an autosomal dominant genodermatosis characterized by uniform hyperkeratosis of the palm and sole epidermis. This disorder can be caused by mutations in the genes keratin...
8.
Lyu Q, Wu L, Li Y, Pan Q, Liu D, Xia K, et al.
Hum Reprod . 2005 Apr; 20(6):1619-23. PMID: 15860502
Background: Varied clinical outcomes of assisted hatching (AH) have been reported. We attempt to investigate whether the size of the zona opening created by AH is adequate for blastocyst hatching,...
9.
Li M, Liang D, Xu Z, Lei L, Yang S
Zhongguo Zhong Yao Za Zhi . 2002 Sep; 25(1):41-3. PMID: 12205974
Objective: Investigating the effect of GLB7 on cAMP in murine peritoneal macrophages to provide a scientific evidence for the immunomodulatory mechanism. Method: Cell culture and radio-immunological assay of cAMP were...
10.
Ji S, Chai Y, Zhang G, Wu Y, Liang D, Xu Z
Biomed Chromatogr . 1999 Oct; 13(7):439-41. PMID: 10534752
A non-aqueous capillary electrophoretic method was established for the determination of berberine in Rhizoma coptidis and its preparations. The effects of organic solvent and the concentrations of sodium acetate were...