Bin Hu

发表

Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

B. Zeng, Wei Zhao, X. Jing, 2015, Imaging science in dentistry.

Clinical Pictures and Novel Mutations of WT1-Associated Denys–Drash Syndrome in Two Chinese Children

Yuanyuan Pei, K. Lai, Xiaoyun Jiang, 2011, Renal failure.

A novel mutation and functional implications of 5 variants in the PRRT2 gene in 20 paroxysmal kinesigenic dyskinesia pedigrees.

X. Jing, Bin Hu, Yiming Wang, 2013, Parkinsonism & related disorders.

Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions

Qibin Li, D. Cooper, C. Férec, 2015, Human Genetics.

A novel mutation, c.494C>A (p.Ala165Asp), in the GPR143 gene causes a mild phenotype in a Chinese X‐linked ocular albinism patient

Tingting Xu, X. Jing, Bin Hu, 2016, Acta ophthalmologica.

Novel rare alleles of ABCA1 are exclusively associated with extreme high-density lipoprotein-cholesterol levels among the Han Chinese

Y. Hao, Hui Guo, Yanfang Zhong, 2009, Clinical chemistry and laboratory medicine.

Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations.

P. Maxwell, Tingting Xu, K. Lai, 2016, The Journal of pediatrics.

Novel compound mutations of SMARCAL1 associated with severe Schimke immuno-osseous dysplasia in a Chinese patient.

Xiaoyun Jiang, Bin Hu, Yiming Wang, 2010, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses.

Peiqiang Su, Yuanyuan Pei, Bin Hu, 2010, Genetic testing and molecular biomarkers.

Effects of cutoff thresholds for minor allele frequencies on HapMap resolution: A real dataset-based evaluation of the Chinese Han and Tibetan populations

Y. Hao, Bin Hu, Yiming Wang, 2009 .

A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.

B. Zeng, Ru Li, Bin Hu, 2016, Gene.

Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients

Zhiyun Yang, Bin Hu, Yiming Wang, 2011, Journal of Bone and Mineral Metabolism.

The p.Ser267Phe variant in SLC10A1 is associated with resistance to chronic hepatitis B

P. Sham, Shuhua Xu, Qibin Li, 2015, Hepatology.

High resolution linkage disequilibrium and haplotype maps for the genes in the centromeric region of chromosome 15 in Tibetans and comparisons with Han population

Bin Hu, Yiming Wang, Yan Zhou, 2006 .

Rare inborn errors associated with chronic hepatitis B virus infection *

P. Sham, Qibin Li, Qiulian Wu, 2012, Hepatology.

Novel mutations c.[5121_5122insAG]+[6859C>T] of the SPG11 gene associated with cerebellum hypometabolism in a Chinese case of hereditary spastic paraplegia with thin corpus callosum.

Jing Ma, X. Jing, Bin Hu, 2014, Parkinsonism & Related Disorders.

Qibin Li, D. Cooper, C. Férec, 2015, Human Genetics.

Novel genes and variants associated with IgA nephropathy by co-segregating with the disease phenotypes in 10 IgAN families.

Qibin Li, M. Lam, K. Lai, 2015, Gene.

A novel p.Gly1700Asp mutation in COL7A1 responsible for dominant dystrophic epidermolysis bullosa: more severe phenotype in female members of a Chinese family.

Xiaoping Zhou, Bin Hu, Yiming Wang, 2008, Journal of dermatological science.

Variation in IGHMBP2 is not associated with IgA nephropathy in independent studies of UK Caucasian and Chinese Han patients.

D. Gale, J. Feehally, P. Maxwell, 2010, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

The p.Ser267Phe variant in SLC10A1 is associated with resistance to chronic hepatitis B

P. Sham, Shuhua Xu, Qibin Li, 2015, Hepatology.