DEFECT 11 syndrome associated with agenesis of the corpus callosum

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

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Journal of medical genetics·2026

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Journal of medical genetics·2026

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Journal of medical genetics·2026

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Journal of medical genetics·2026

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Journal of medical genetics·2026

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Journal of medical genetics·2026

Case Report: A case of acute kidney injury due to star fruit-infused liquor.

Frontiers in medicine·2026

Correction: Kamińska et al. Behavior at Air/Water Interface and Oxidative Stability of Vegetable Oils Analyzed Through Langmuir Monolayer Technique. Molecules 2025, 30, 170.

Molecules (Basel, Switzerland)·2026

Acute Bilateral Corneal Oedema Following Suspected Toxic Endothelial Insult: An Intriguing Case Report.

Cureus·2026

Novel MORC2 variants in Charcot-Marie-Tooth disease type 2Z: genetic and functional insights.

Frontiers in medicine·2026

Related Experiment Videos

DEFECT 11 syndrome associated with agenesis of the corpus callosum

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.

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Case Report: A case of acute kidney injury due to star fruit-infused liquor.

Correction: Kamińska et al. Behavior at Air/Water Interface and Oxidative Stability of Vegetable Oils Analyzed Through Langmuir Monolayer Technique. Molecules 2025, 30, 170.

Acute Bilateral Corneal Oedema Following Suspected Toxic Endothelial Insult: An Intriguing Case Report.

Novel MORC2 variants in Charcot-Marie-Tooth disease type 2Z: genetic and functional insights.

Related Experiment Videos

DEFECT 11 syndrome associated with agenesis of the corpus callosum

Related Concept Videos

Related Articles