Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease
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Volume 19, issue 1, December 2018
216 articles in this issue
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Exome sequencing reveals a de novo PRKG1 mutation in a sporadic patient with aortic dissection
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Genetics of rotator cuff tears: no association of col5a1 gene in a case-control study
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Association of glucocorticoid receptor gene polymorphism and occupational stress with hypertension in desert petroleum workers in Xinjiang, China
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Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel
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Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report
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Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report
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Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a
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Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report
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Genetic insights into fetal growth and measures of glycaemic regulation and adiposity in adulthood: a family-based study
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Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report
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Genetic associations in community context: a mixed model approach identifies a functional variant in the RBP4 gene associated with HDL-C dyslipidemia
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A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease
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Association of Uncoupling Protein 1 (UCP1) gene polymorphism with obesity: a case-control study
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A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family
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Relationship between transforming growth factor-β1 and type 2 diabetic nephropathy risk in Chinese population
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Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome
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Identification of novel LEPR mutations in Pakistani families with morbid childhood obesity
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A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report
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De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report
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Expanding the clinical phenotype of IARS2-related mitochondrial disease
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Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant
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ENHO, RXRA, and LXRA polymorphisms and dyslipidaemia, related comorbidities and survival in haemodialysis patients
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A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report
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NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report
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Novel MEF2C point mutations in Chinese patients with Rett (−like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation
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A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family
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Do polymorphisms in protein kinase catalytic subunit alpha-1 gene associated with cancer susceptibility? a meta-analysis and systematic review
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Detection of a heterozygous germline APC mutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in Vietnam
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An African perspective on the genetic risk of chronic kidney disease: a systematic review
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Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction
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Response to olaparib in metastatic castration-resistant prostate cancer with germline BRCA2 mutation: a case report
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De novo mutations in SCN1A are associated with classic Rett syndrome: a case report
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Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease
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Association between acromegaly and a single nucleotide polymorphism (rs2854744) in the IGFBP3 gene
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Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth
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Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families
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Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India
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A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report
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Detecting clinically actionable variants in the 3′ exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene
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Muscle-specific regulation of right ventricular transcriptional responses to chronic hypoxia-induced hypertrophy by the muscle ring finger-1 (MuRF1) ubiquitin ligase in mice
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The estrogen receptor 1 gene affects bone mineral density and osteoporosis treatment efficiency in Slovak postmenopausal women
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Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report
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Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy
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Correlation between CTLA-4 and CD40 gene polymorphisms and their interaction in graves’ disease in a Chinese Han population
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First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report
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Association between GDF5 rs143383 genetic polymorphism and musculoskeletal degenerative diseases susceptibility: a meta-analysis
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Notch polymorphisms associated with sensitivity of noise induced hearing loss among Chinese textile factory workers
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Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria
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