molecular genetics & genomic medicine

molecular genetics & genomic medicine

Top Clicked Bibliographies from Search

2019 Analysis of miRNA-mRNA regulatory network revealed key genes induced by aflatoxin B1 exposure in primary human hepatocytes. Clicks: 327

2019 Genetic variations in familial hypercholesterolemia and cascade screening in East Asians. Clicks: 300

2019 Metformin treatment in young children with fragile X syndrome. Clicks: 255

2019 Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1-4 of DRC1 in Japanese patients with recurrent sinopulmonary infection. Clicks: 237

2019 Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes. Clicks: 235

2019 ENAM mutations and digenic inheritance. Clicks: 219

2019 Inverted duplication, triplication and quintuplication through sequential breakage-fusion-bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion. Clicks: 218

2020 Developmental aspects of FXAND in a man with the FMR1 premutation. Clicks: 204

2019 Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity. Clicks: 196

2018 New mutations and an updated database for the patched-1 (PTCH1) gene. Clicks: 173