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Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction JOURNAL ARTICLE published December 2018 in BMC Medical Genetics Research funded by National Natural Science Foundation of China (81771645,81471432) | Graduate Research and Innovation Projects of Central South University (Grant 2017zzts372) | Scientific Research Foundation of Reproductive and Genetic Hospital of CITIC-Xiangya (YNXM-201802) |
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A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking JOURNAL ARTICLE published December 2014 in BMC Medical Genetics |
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MLPA-based genotype–phenotype analysis in 1053 Chinese patients with DMD/BMD JOURNAL ARTICLE published December 2013 in BMC Medical Genetics |
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KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature JOURNAL ARTICLE published December 2020 in BMC Medical Genetics Research funded by Department of Biotechnology , Ministry of Science and Technology (BT/PR18182/BIC/101/937/2016) |
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Genetic variations in APPL2 are associated with overweight and obesity in a Chinese population with normal glucose tolerance JOURNAL ARTICLE published December 2012 in BMC Medical Genetics |
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Testing the thrifty gene hypothesis: the Gly482Ser variant in PPARGC1Ais associated with BMI in Tongans JOURNAL ARTICLE published December 2011 in BMC Medical Genetics |
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KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome JOURNAL ARTICLE published December 2015 in BMC Medical Genetics |
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Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies JOURNAL ARTICLE published December 2013 in BMC Medical Genetics |
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Polymorphisms in genes controlling inflammation and tissue repair in rheumatoid arthritis: a case control study JOURNAL ARTICLE published December 2011 in BMC Medical Genetics |
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The impact of the Catechol-O-methyltransferase Val158Met polymorphism on survival in the general population – the HUNT study JOURNAL ARTICLE published December 2007 in BMC Medical Genetics |
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Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report JOURNAL ARTICLE published December 2019 in BMC Medical Genetics |
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Hereditary Hemochromatosis (HFE) genotypes in heart failure: Relation to etiology and prognosis JOURNAL ARTICLE published December 2010 in BMC Medical Genetics |
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First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome JOURNAL ARTICLE published December 2017 in BMC Medical Genetics |
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Association analysis of chromosome 1 migraine candidate genes JOURNAL ARTICLE published December 2007 in BMC Medical Genetics |
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Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1genes JOURNAL ARTICLE published December 2013 in BMC Medical Genetics |
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Development and validation of a multiplex-PCR assay for X-linked intellectual disability JOURNAL ARTICLE published December 2013 in BMC Medical Genetics |
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A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report JOURNAL ARTICLE published December 2018 in BMC Medical Genetics Research funded by Ministry of Health & Welfare, Republic of Korea (HI12C0014) |
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Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM JOURNAL ARTICLE published December 2008 in BMC Medical Genetics |
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Familial deletion 18p syndrome: case report JOURNAL ARTICLE published December 2006 in BMC Medical Genetics |
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Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus JOURNAL ARTICLE published December 2019 in BMC Medical Genetics Research funded by Russian Science Foundation (17-15-01051) | Czech Ministry of Health (IP00064203/6003) |