North Eurasian origin of the myotonic dystrophy mutation

Congenital heart defects in the recurrent 2q13 deletion syndrome.

European journal of medical genetics·2021

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.

Clinical genetics·2018

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Clinical genetics·2018

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.

Clinical genetics·2017

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Clinical genetics·2017

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

Molecular syndromology·2013

Integrated Mutation Profiling and Prognostic Genomic Signature in Pediatric Testicular and Ovarian Germ Cell Tumors.

Human mutation·2026

Molecular Characterization of TSC1 and TSC2 Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients.

Human mutation·2026

Structural Genomics Defines PBRM1 Bromodomain Variant Function in ccRCC.

Human mutation·2026

Whole-Exome Sequencing in Undiagnosed Muscular Dystrophies: A High Diagnostic Yield and Novel Insights From Iranian Families.

Human mutation·2026

Complex Genomic Rearrangement Involving the TBX4 Promoter Manifesting With Variable Expressivity in a Five-Generation Family.

Human mutation·2026

ESR1 and PIK3CA Polymorphisms as Potential Genetic Susceptibility Markers for Breast Cancer Risk in Bangladeshi Women: A Case-Control Study.

Human mutation·2026

Charge Carrier Dynamics in 6 nm CsPbBr3-Pb4S3Br2 Heterostructured Quantum Dots.

The journal of physical chemistry letters·2026

Enhanced Photoluminescence in Nitrogen-Boron-Codoped Carbon Dots: A First-Principles Study on Synergistic Charge Transfer Mechanisms.

The journal of physical chemistry. A·2026

Targeting NAT10 with Remodelin reshapes the pro-fibrotic microenvironment in renal fibrogenesis via inhibiting exosome oversecretion from tubular cells.

Acta pharmaceutica Sinica. B·2026

Dielectric Encapsulated Niobium Films to Achieve Higher Processing Temperatures.

IEEE transactions on applied superconductivity : a publication of the IEEE Superconductivity Committee·2026

Carbon Nanotube-Based Gas Sensors: Sensing Mechanisms, Functional Interfaces, Gas-Specific Performance, and Flexible/Wearable Integration.

Sensors (Basel, Switzerland)·2026

Nanomolar vanillin, an e-cigarette flavorant, appears to disrupt pluripotency and promote endodermal differentiation in human embryonic stem cells via TRPV4 activation.

Human reproduction (Oxford, England)·2026

Related Experiment Videos

North Eurasian origin of the myotonic dystrophy mutation

Related Concept Videos

Congenital heart defects in the recurrent 2q13 deletion syndrome.

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

Integrated Mutation Profiling and Prognostic Genomic Signature in Pediatric Testicular and Ovarian Germ Cell Tumors.

Molecular Characterization of TSC1 and TSC2 Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients.

Structural Genomics Defines PBRM1 Bromodomain Variant Function in ccRCC.

Whole-Exome Sequencing in Undiagnosed Muscular Dystrophies: A High Diagnostic Yield and Novel Insights From Iranian Families.

Complex Genomic Rearrangement Involving the TBX4 Promoter Manifesting With Variable Expressivity in a Five-Generation Family.

ESR1 and PIK3CA Polymorphisms as Potential Genetic Susceptibility Markers for Breast Cancer Risk in Bangladeshi Women: A Case-Control Study.

Charge Carrier Dynamics in 6 nm CsPbBr3-Pb4S3Br2 Heterostructured Quantum Dots.

Enhanced Photoluminescence in Nitrogen-Boron-Codoped Carbon Dots: A First-Principles Study on Synergistic Charge Transfer Mechanisms.

Targeting NAT10 with Remodelin reshapes the pro-fibrotic microenvironment in renal fibrogenesis via inhibiting exosome oversecretion from tubular cells.

Dielectric Encapsulated Niobium Films to Achieve Higher Processing Temperatures.

Carbon Nanotube-Based Gas Sensors: Sensing Mechanisms, Functional Interfaces, Gas-Specific Performance, and Flexible/Wearable Integration.

Nanomolar vanillin, an e-cigarette flavorant, appears to disrupt pluripotency and promote endodermal differentiation in human embryonic stem cells via TRPV4 activation.

Related Experiment Videos

North Eurasian origin of the myotonic dystrophy mutation

Related Concept Videos

Related Articles