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BMC Medical Genetics
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1 Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.
2 FOXP2 gene and language impairment in schizophrenia: association and epigenetic studies.
3 Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study.
4 Genetic testing of newborns for type 1 diabetes susceptibility: a prospective cohort study on effects on maternal mental health.
5 Genetic polymorphisms in MDR1, CYP3A4 and CYP3A5 genes in a Ghanaian population: a plausible explanation for altered metabolism of ivermectin in humans?
6 Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family.
7 Estrogen Receptor-Beta Gene Polymorphism in women with Breast Cancer at the Imam Khomeini Hospital Complex, Iran.
8 Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls.
9 The common rs9939609 variant of the fat mass and obesity-associated gene is associated with obesity risk in children and adolescents of Beijing, China.
10 Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors.
11 Genetic evidence of multiple loci in dystocia - difficult labour.
12 Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.
13 Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility.
14 Application of a target array Comparative Genomic Hybridization to prenatal diagnosis.
15 Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India.
16 Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder.
17 Association of IL1A and IL1B loci with primary open angle glaucoma.
18 The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.
19 Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population.
20 The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
 
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