Two novel serine repeat length polymorphisms (1043insS and 1043insSS) at exon 23 of the TSC1 gene

Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations.

Clinical genetics·2018

Effect of Antihypertensive Drugs on Uric Acid Metabolism in Patients with Hypertension: Cross-Sectional Cohort Study.

Drug research·2016

Characterization of SPATA5-related encephalopathy in early childhood.

Clinical genetics·2016

Effects of Uric Acid on the NO Production of HUVECs and its Restoration by Urate Lowering Agents.

Drug research·2016

Conformationally-locked C-glycosides: tuning aglycone interactions for optimal chaperone behaviour in Gaucher fibroblasts.

Organic & biomolecular chemistry·2015

Carvedilol Suppresses Apoptosis and Ion Channel Remodelling of HL-1 Cardiac Myocytes Expressing E334K cMyBPC.

Drug research·2015

Patient-Derived iPSC-Cardiomyocytes Reveal Subclinical Cardiomyocyte Dysfunction Associated With the CAV3 N-Terminal Variant p.Ala46Thr.

Human mutation·2026

Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani Families.

Human mutation·2026

Zygosity-Dependent Phenotypic Spectrum of RELN-Related Disorders: 10 New Patients and Genotype-Phenotype Correlations Across 48 Kindreds.

Human mutation·2026

Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype Correlations.

Human mutation·2026

Infantile Epileptic Spasm Syndrome Caused by TAF1 Missense Variants: Expanding the Epileptic Phenotype and Revealing Underlying Impairments in Neuronal Excitability and Development.

Human mutation·2026

Conventional and Shared Genetic Association Analysis Between Diabetes Mellitus and Sensorineural Hearing Loss.

Human mutation·2026

T2T-CHM13 reference genome reduces mapping bias and enhances alignment accuracy at disease-associated variants.

iScience·2026

Genome-wide exploration of coat color-associated loci in Hokkaido Native Horses, with a novel locus implicated in the roan phenotype.

Journal of equine science·2026

Diagnostic limitations of routine low-coverage CNV-seq in detecting mosaic paternal uniparental disomy in Beckwith-Wiedemann syndrome: a case report.

Frontiers in medicine·2026

Cataract GWAS meta-analysis and multi-omics Mendelian randomisation inform disease mechanisms and candidate target prioritisation.

EBioMedicine·2026

Cross-Ethnic Replication of Intersectin-1 as a Parkinson's Disease Susceptibility Gene in a Large Chinese Cohort.

Movement disorders : official journal of the Movement Disorder Society·2026

Chromosomal abnormalities in isolated persistent left superior vena cava: A systematic review and meta-analysis.

Turkish journal of obstetrics and gynecology·2026

Related Experiment Videos

Two novel serine repeat length polymorphisms (1043insS and 1043insSS) at exon 23 of the TSC1 gene

Related Concept Videos

Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations.

Effect of Antihypertensive Drugs on Uric Acid Metabolism in Patients with Hypertension: Cross-Sectional Cohort Study.

Characterization of SPATA5-related encephalopathy in early childhood.

Effects of Uric Acid on the NO Production of HUVECs and its Restoration by Urate Lowering Agents.

Conformationally-locked C-glycosides: tuning aglycone interactions for optimal chaperone behaviour in Gaucher fibroblasts.

Carvedilol Suppresses Apoptosis and Ion Channel Remodelling of HL-1 Cardiac Myocytes Expressing E334K cMyBPC.

Patient-Derived iPSC-Cardiomyocytes Reveal Subclinical Cardiomyocyte Dysfunction Associated With the CAV3 N-Terminal Variant p.Ala46Thr.

Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani Families.

Zygosity-Dependent Phenotypic Spectrum of RELN-Related Disorders: 10 New Patients and Genotype-Phenotype Correlations Across 48 Kindreds.

Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype Correlations.

Infantile Epileptic Spasm Syndrome Caused by TAF1 Missense Variants: Expanding the Epileptic Phenotype and Revealing Underlying Impairments in Neuronal Excitability and Development.

Conventional and Shared Genetic Association Analysis Between Diabetes Mellitus and Sensorineural Hearing Loss.

T2T-CHM13 reference genome reduces mapping bias and enhances alignment accuracy at disease-associated variants.

Genome-wide exploration of coat color-associated loci in Hokkaido Native Horses, with a novel locus implicated in the roan phenotype.

Diagnostic limitations of routine low-coverage CNV-seq in detecting mosaic paternal uniparental disomy in Beckwith-Wiedemann syndrome: a case report.

Cataract GWAS meta-analysis and multi-omics Mendelian randomisation inform disease mechanisms and candidate target prioritisation.

Cross-Ethnic Replication of Intersectin-1 as a Parkinson's Disease Susceptibility Gene in a Large Chinese Cohort.

Chromosomal abnormalities in isolated persistent left superior vena cava: A systematic review and meta-analysis.

Related Experiment Videos

Two novel serine repeat length polymorphisms (1043insS and 1043insSS) at exon 23 of the TSC1 gene

Related Concept Videos

Related Articles