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Phenotype and genotype analysis of two Chinese pedigrees with type 3 von Willebrand diseases

Zhonghua yi xue yi chuan xue za zhi, 2012-10, Vol.29 (5), p.524

2012

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Improving the diagnostic method for the SLC25A13 gene 851del4 mutation and analysis of the common mutation frequencies in Quanzhou area

Zhonghua yi xue yi chuan xue za zhi, 2010-12, Vol.27 (6), p.626

2010

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New polymorphism (IVS3-20 T-->C) of the parkin gene associated with the early-onset Parkinson's disease in Chinese

Zhonghua yi xue yi chuan xue za zhi, 2004-06, Vol.21 (3), p.219

2004

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Inherited coagulation factor VII deficiency caused by double heterozygotic mutations Arg304Gln and Arg304Trp

Zhonghua yi xue yi chuan xue za zhi, 2003-08, Vol.20 (4), p.279

2003

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Deletions and rearrangements of PAX5 gene in B-lineage acute lymphoblastic leukemia

Zhonghua yi xue yi chuan xue za zhi, 2013-10, Vol.30 (5), p.549

2013

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Analysis of small supernumerary marker chromosome 15q11 in four infertile males

Zhonghua yi xue yi chuan xue za zhi, 2013-10, Vol.30 (5), p.539

2013

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Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency

Zhonghua yi xue yi chuan xue za zhi, 2013-10, Vol.30 (5), p.574

2013

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Diagnosis and treatment of isolated methylmalonic acidemia

Zhonghua yi xue yi chuan xue za zhi, 2013-10, Vol.30 (5), p.589

2013

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Genetic diagnosis and analysis of related genes for a pedigree with 2p25 and 12p13 cryptic rearrangements

Zhonghua yi xue yi chuan xue za zhi, 2014-08, Vol.31 (4), p.444

2014

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Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency

Zhonghua yi xue yi chuan xue za zhi, 2010-04, Vol.27 (2), p.180

2010

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The clinical and experimental analyses of a multiple myeloma patient with derivative der(Y;1)

Zhonghua yi xue yi chuan xue za zhi, 2010-04, Vol.27 (2), p.214

2010

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Analysis of the MUT gene mutations in patients with methylmalonic acidemia

Zhonghua yi xue yi chuan xue za zhi, 2009-10, Vol.26 (5), p.485

2009

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Clinical and cytogenetic study of 6 cases of hematological disorders associated with 20q- and t (20;21) (q11;q11) abnormalities

Zhonghua yi xue yi chuan xue za zhi, 2013-04, Vol.30 (2), p.138

2013

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Gene mutation analyses in Chinese children with multiple carboxylase deficiency

Zhonghua yi xue yi chuan xue za zhi, 2009-10, Vol.26 (5), p.504

2009

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Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders

Zhonghua yi xue yi chuan xue za zhi, 2007-12, Vol.24 (6), p.692

2007

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Fluorescence in situ hybridization studies on a myeloid leukemia patient with ins(8;21)(q22;q22.1q22.3)

Zhonghua yi xue yi chuan xue za zhi, 2009-04, Vol.26 (2), p.203

2009

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Clinical and experimental retrospective analysis on acute leukemia with trisomy 4 cell

Zhonghua yi xue yi chuan xue za zhi, 2007-08, Vol.24 (4), p.369

2007

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The cytogenetic features of Burkitt leukemia

Zhonghua yi xue yi chuan xue za zhi, 2008-04, Vol.25 (2), p.214

2008

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Simultaneous presence of ins (15;17),t(2;17;20) and trisomy 8 in a patient with acute promyelocytic leukemia

Zhonghua yi xue yi chuan xue za zhi, 2008-12, Vol.25 (6), p.712

2008

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Analysis of complex chromosomal aberrations in patients with myelodysplastic syndromes using multiplex fluorescence in situ hybridization combined with whole chromosome painting

Zhonghua yi xue yi chuan xue za zhi, 2007-12, Vol.24 (6), p.635

2007

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Molecular genetics in chronic myeloid leukemia with variant Ph translocation

Zhonghua yi xue yi chuan xue za zhi, 2007-08, Vol.24 (4), p.470

2007

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Abnormalities of chromosome 17 in myeloid malignancies with complex chromosomal abnormalities

Zhonghua yi xue yi chuan xue za zhi, 2008-10, Vol.25 (5), p.579

2008

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Analysis and application of SCA1 and SCA3/MJD gene CAG repeats in Han population in Northeastern China

Zhonghua yi xue yi chuan xue za zhi, 2004-02, Vol.21 (1), p.83

2004

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Preliminary analysis on human telomerase reverse transcriptase gene expression in acute leukemia

Zhonghua yi xue yi chuan xue za zhi, 2003-02, Vol.20 (1), p.61

2003

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Genetic polymorphisms of short tandem repeat loci D3S1358, D13S317, D5S818 from Nongqu Mongolia

Zhonghua yi xue yi chuan xue za zhi, 2004-06, Vol.21 (3), p.297

2004

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Phenotype and genotype analysis of two Chinese pedigrees with type 3 von Willebrand diseases

Improving the diagnostic method for the SLC25A13 gene 851del4 mutation and analysis of the common mutation frequencies in Quanzhou area

New polymorphism (IVS3-20 T-->C) of the parkin gene associated with the early-onset Parkinson's disease in Chinese

Inherited coagulation factor VII deficiency caused by double heterozygotic mutations Arg304Gln and Arg304Trp

Deletions and rearrangements of PAX5 gene in B-lineage acute lymphoblastic leukemia

Analysis of small supernumerary marker chromosome 15q11 in four infertile males

Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency

Diagnosis and treatment of isolated methylmalonic acidemia

Genetic diagnosis and analysis of related genes for a pedigree with 2p25 and 12p13 cryptic rearrangements

Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency

The clinical and experimental analyses of a multiple myeloma patient with derivative der(Y;1)

Analysis of the MUT gene mutations in patients with methylmalonic acidemia

Clinical and cytogenetic study of 6 cases of hematological disorders associated with 20q- and t (20;21) (q11;q11) abnormalities

Gene mutation analyses in Chinese children with multiple carboxylase deficiency

Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders

Fluorescence in situ hybridization studies on a myeloid leukemia patient with ins(8;21)(q22;q22.1q22.3)

Clinical and experimental retrospective analysis on acute leukemia with trisomy 4 cell

The cytogenetic features of Burkitt leukemia

Simultaneous presence of ins (15;17),t(2;17;20) and trisomy 8 in a patient with acute promyelocytic leukemia

Analysis of complex chromosomal aberrations in patients with myelodysplastic syndromes using multiplex fluorescence in situ hybridization combined with whole chromosome painting

Molecular genetics in chronic myeloid leukemia with variant Ph translocation

Abnormalities of chromosome 17 in myeloid malignancies with complex chromosomal abnormalities

Analysis and application of SCA1 and SCA3/MJD gene CAG repeats in Han population in Northeastern China

Preliminary analysis on human telomerase reverse transcriptase gene expression in acute leukemia

Genetic polymorphisms of short tandem repeat loci D3S1358, D13S317, D5S818 from Nongqu Mongolia

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