molecular genetics & genomic medicine

mol genet genomic med ISSN 2324-9269 354 views

Indexed In

ncbi ulakbim

Publications

10

ULAKBİM MEP: - Ödeme: 3750 Yılı: 2019

Details

Abbreviated Name: mol genet genomic med
ISSN: 2324-9269

Publications/Year

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

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Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.

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Metformin treatment in young children with fragile X syndrome.

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

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

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

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ENAM mutations and digenic inheritance.

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Developmental aspects of FXAND in a man with the FMR1 premutation.

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

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

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