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MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome

Journal of human genetics, 2007, Vol.52 (1), p.38-47

2007

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X Chromosome Inactivation in Rett Syndrome and Its Correlations With MeCP2 Mutations and Phenotype

Journal of child neurology, 2008-01, Vol.23 (1), p.22-25

2008

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Spinal Cord Demyelination Associated with Biotinidase Deficiency in 3 Chinese Patients

Journal of child neurology, 2007-02, Vol.22 (2), p.156-160

2007

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Clinical, pathological and molecular biological characteristics of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode in children

Zhonghua er ke za zhi, 2013-02, Vol.51 (2), p.130

2013

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Clinical and genetic study of twelve Chinese patients with Alexander disease

Zhonghua er ke za zhi, 2012-05, Vol.50 (5), p.371

2012

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Genotype, phenotype analysis and follow-up study on patients with Duchenne/Becker muscular dystrophy

Beijing da xue xue bao. Journal of Peking University. Yi xue ban, 2010-12, Vol.42 (6), p.661

2010

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Multiplex ligation-dependent probe amplification analysis of subtelomeric chromosome rearrangements in children with idiopathic mental retardation

Zhong hua yi xue za zhi, 2009-11, Vol.89 (40), p.2839-2842

2009

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Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome

Zhonghua er ke za zhi, 2009-02, Vol.47 (2), p.124

2009

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Clinical features and genotype-phenotype studies of 89 Chinese patients with X-linked adrenoleukodystrophy

Zhonghua er ke za zhi, 2007-03, Vol.45 (3), p.203

2007

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Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome

Zhong hua yi xue za zhi, 2008-12, Vol.88 (46), p.3257-3261

2008

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Application of long range polymerase chain reaction and DNA direct sequencing in diagnosis of Rett syndrome

Zhonghua er ke za zhi, 2007-08, Vol.45 (8), p.579

2007

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Clinical characteristics and treatment of Rasmussen syndrome in 16 children

Zhonghua er ke za zhi, 2007-09, Vol.45 (9), p.697

2007

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X chromosome inactivation patterns in patients with Rett syndrome and their mothers and the parental origin of the priority inactive X chromosome

Zhonghua er ke za zhi, 2006-09, Vol.44 (9), p.648

2006

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The genotype and phenotype studies of 40 Chinese patients with X-linked adrenoleukodystrophy (X-ALD)

Beijing da xue xue bao. Journal of Peking University. Yi xue ban, 2006-02, Vol.38 (1), p.66

2006

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T-type calcium channel gene-CACNA1H is a susceptibility gene to childhood absence epilepsy

Zhonghua er ke za zhi, 2005-02, Vol.43 (2), p.133

2005

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MECP2 gene mutations in twenty-six cases with atypical Rett syndrome

Zhonghua er ke za zhi, 2006-04, Vol.44 (4), p.285

2006

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The effect of CACNA1H gene G773D mutation on calcium channel function

Zhonghua yi xue yi chuan xue za zhi, 2006-08, Vol.23 (4), p.369

2006

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Clinical and laboratory screening studies on urea cycle defects

Zhonghua er ke za zhi, 2005-05, Vol.43 (5), p.331

2005

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Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome

Clinical genetics, 2006-11, Vol.70 (5), p.418-419

2006

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An epidemiological study on mental retardation among children in Chang-qiao area of Beijing

Chinese medical journal, 1986-01, Vol.99 (1), p.9

1986

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Single Nucleotide Polymorphism rs10919543 in FCGR2A/ FCGR3A Region Confers Susceptibility to Takayasu Arteritis in Chinese Population

Chinese medical journal, 2016-04, Vol.129 (7), p.854-859

2016

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Characterization of erythromycin-resistant Streptococcus pneumoniae isolates causing invasive diseases in Chinese children

Chinese medical journal, 2013, Vol.126 (8), p.1522-1527

2013

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Clinical analysis of surgical treatment of portal hypertension

World journal of gastroenterology : WJG, 2005-08, Vol.11 (29), p.4552

2005

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MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome

X Chromosome Inactivation in Rett Syndrome and Its Correlations With MeCP2 Mutations and Phenotype

Spinal Cord Demyelination Associated with Biotinidase Deficiency in 3 Chinese Patients

Clinical, pathological and molecular biological characteristics of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode in children

Clinical and genetic study of twelve Chinese patients with Alexander disease

Genotype, phenotype analysis and follow-up study on patients with Duchenne/Becker muscular dystrophy

Multiplex ligation-dependent probe amplification analysis of subtelomeric chromosome rearrangements in children with idiopathic mental retardation

Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome

Clinical features and genotype-phenotype studies of 89 Chinese patients with X-linked adrenoleukodystrophy

Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome

Application of long range polymerase chain reaction and DNA direct sequencing in diagnosis of Rett syndrome

Clinical characteristics and treatment of Rasmussen syndrome in 16 children

X chromosome inactivation patterns in patients with Rett syndrome and their mothers and the parental origin of the priority inactive X chromosome

The genotype and phenotype studies of 40 Chinese patients with X-linked adrenoleukodystrophy (X-ALD)

T-type calcium channel gene-CACNA1H is a susceptibility gene to childhood absence epilepsy

MECP2 gene mutations in twenty-six cases with atypical Rett syndrome

The effect of CACNA1H gene G773D mutation on calcium channel function

Clinical and laboratory screening studies on urea cycle defects

Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome

An epidemiological study on mental retardation among children in Chang-qiao area of Beijing

Single Nucleotide Polymorphism rs10919543 in FCGR2A/ FCGR3A Region Confers Susceptibility to Takayasu Arteritis in Chinese Population

Characterization of erythromycin-resistant Streptococcus pneumoniae isolates causing invasive diseases in Chinese children

Clinical analysis of surgical treatment of portal hypertension

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