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「Mol Genet Genomic Med[Journal]」の検索結果

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Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.

Construction and evaluation of an efficient C-Jun siRNA to downregulate matrix metalloproteinase in human keratinocytes and fibroblasts under UV exposure.

Inhibitory effect of alpinetin on IL-6 expression by promoting cytosine methylation in CpG islands in the IL-6 promoter region.

MiR-191-5p inhibits lung adenocarcinoma by repressing SATB1 to inhibit Wnt pathway.

Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing.

From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencing.

Investigation of the STOX1 polymorphism on lumbar disc herniation.

Association of single nucleotide polymorphisms at 20q12 with nonsyndromic cleft lip with or without cleft palate in a Southern Chinese Han cohort.

Spinal neurofibromatosis with NF1 mutation in a classic neurofibromatosis type 1 family: A case report and literature review.

Sleep disordered breathing in Marfan syndrome: Value of standard screening questionnaires.

Sudden unexpected death in asymptomatic infants due to PPA2 variants.

Identification of a five-mRNA signature as a novel potential prognostic biomarker in pediatric Wilms tumor.

Macrophage migration inhibitory factor promoter polymorphisms are associated with disease activity in rheumatoid arthritis patients from Southern Mexico.

Placental endothelial nitric oxide synthase expression and role of oxidative stress in susceptibility to preeclampsia in Pakistani women.

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

Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.

MicroRNA-576-5p enhances the invasion ability of trophoblast cells in preeclampsia by targeting TFAP2A.

Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers.

Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines.

Genetic variability in Iranian limb-girdle muscular dystrophy type 2B patients: An evidence of a founder effect.

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