A dinucleotide repeat polymorphism in the human LAMB2 gene on chromosome 1q

ORE identifies extreme expression effects enriched for rare variants.

Bioinformatics (Oxford, England)·2019

Generating and evaluating a ranked candidate gene list for potential vertebrate heart field regulators.

Genomics data·2015

Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods.

Proceedings of the National Academy of Sciences of the United States of America·2009

Pheochromocytoma-induced cardiomyopathy is modulated by the synergistic effects of cell-secreted factors.

Circulation. Heart failure·2009

Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection.

Nature methods·2009

Cardiac myosin binding protein-C is essential for thick-filament stability and flexural rigidity.

Biophysical journal·2009

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.

Human molecular genetics·2026

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Human molecular genetics·2026

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

Human molecular genetics·2026

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Human molecular genetics·2026

A patient-derived mouse model reproduces molecular, neurological, and sleep symptoms of SHINE syndrome.

Human molecular genetics·2026

The potential regulatory relationship between hsa_circ_0000973 and MBOAT2 in hypertriglyceridemia with abnormal glucose metabolism.

Human molecular genetics·2026

Genetic analysis of inflammatory proteins following BCG vaccination in Danish children.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie·2026

Uncovering Hereditary Risk: Germline Homologous Recombination Repair Variant Spectrum in a Large North Indian Cancer Cohort (INSIGHT-HRR).

JCO global oncology·2026

Ex vivo fluorescence confocal microscopy combined with rapid immunofluorescence for intraoperative intestinal mapping in near-total intestinal aganglionosis: a pediatric proof-of-concept case report.

Frontiers in medical technology·2026

Mechanisms and management of IgA nephropathy progression to end-stage renal disease: From the "four-hit" theory to precision medicine.

Clinical nephrology·2026

Evaluating Selection Strategies Based on Inbreeding Load via Simulation.

Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie·2026

Molecular and clinical heterogeneity in an Iranian case series of Joubert syndrome.

Molecular genetics and metabolism reports·2026

Related Experiment Videos

A dinucleotide repeat polymorphism in the human LAMB2 gene on chromosome 1q

Related Concept Videos

ORE identifies extreme expression effects enriched for rare variants.

Generating and evaluating a ranked candidate gene list for potential vertebrate heart field regulators.

Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods.

Pheochromocytoma-induced cardiomyopathy is modulated by the synergistic effects of cell-secreted factors.

Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection.

Cardiac myosin binding protein-C is essential for thick-filament stability and flexural rigidity.

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

A patient-derived mouse model reproduces molecular, neurological, and sleep symptoms of SHINE syndrome.

The potential regulatory relationship between hsa_circ_0000973 and MBOAT2 in hypertriglyceridemia with abnormal glucose metabolism.

Genetic analysis of inflammatory proteins following BCG vaccination in Danish children.

Uncovering Hereditary Risk: Germline Homologous Recombination Repair Variant Spectrum in a Large North Indian Cancer Cohort (INSIGHT-HRR).

Ex vivo fluorescence confocal microscopy combined with rapid immunofluorescence for intraoperative intestinal mapping in near-total intestinal aganglionosis: a pediatric proof-of-concept case report.

Mechanisms and management of IgA nephropathy progression to end-stage renal disease: From the "four-hit" theory to precision medicine.

Evaluating Selection Strategies Based on Inbreeding Load via Simulation.

Molecular and clinical heterogeneity in an Iranian case series of Joubert syndrome.

Related Experiment Videos

A dinucleotide repeat polymorphism in the human LAMB2 gene on chromosome 1q

Related Concept Videos

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