Meiotic drive at the myotonic dystrophy locus

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

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Journal of medical genetics·2026

The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

Journal of medical genetics·2026

Enrichment of an Ehlers-Danlos-like phenotype in women with the FMR1 premutation: a pilot study.

Journal of medical genetics·2026

Everolimus for the treatment of neuropsychological deficits in tuberous sclerosis complex: findings from the TRON multicentre randomised controlled trial.

Journal of medical genetics·2026

Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency.

Journal of medical genetics·2026

Unified genetic risk score for prostate cancer enables improved risk stratification for clinical decision-making.

Journal of medical genetics·2026

When a Mimicker Is Mimicked: A Case report on Acid-Fast Atypical Lepromatous Leprosy Mimicking Tuberculosis.

Indian journal of medical microbiology·2026

Proposed Solutions for a Multiple Myeloma Case with Unobtainable Serum.

Clinical laboratory·2026

Mitochondrial bioenergetic remodeling underlies fingolimod-induced immunometabolic adaptation in multiple sclerosis.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie·2026

Mosaic Loss of Y Chromosome and Risks of Peripheral Arterial and Aortic Diseases.

JACC. Advances·2026

Overlapping mycoses in a case of Seborrheic dermatitis with coexistent Malassezia folliculitis.

Medical mycology case reports·2026

Correction: MAFLD is associated with lower bone mineral density in patients with type 2 diabetes: an exploratory cross-sectional analysis of a potential indirect association with HOMA-IR.

Frontiers in medicine·2026

Related Experiment Videos

Meiotic drive at the myotonic dystrophy locus

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.

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

Enrichment of an Ehlers-Danlos-like phenotype in women with the FMR1 premutation: a pilot study.

Everolimus for the treatment of neuropsychological deficits in tuberous sclerosis complex: findings from the TRON multicentre randomised controlled trial.

Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency.

Unified genetic risk score for prostate cancer enables improved risk stratification for clinical decision-making.

When a Mimicker Is Mimicked: A Case report on Acid-Fast Atypical Lepromatous Leprosy Mimicking Tuberculosis.

Proposed Solutions for a Multiple Myeloma Case with Unobtainable Serum.

Mitochondrial bioenergetic remodeling underlies fingolimod-induced immunometabolic adaptation in multiple sclerosis.

Mosaic Loss of Y Chromosome and Risks of Peripheral Arterial and Aortic Diseases.

Overlapping mycoses in a case of Seborrheic dermatitis with coexistent Malassezia folliculitis.

Correction: MAFLD is associated with lower bone mineral density in patients with type 2 diabetes: an exploratory cross-sectional analysis of a potential indirect association with HOMA-IR.

Related Experiment Videos

Meiotic drive at the myotonic dystrophy locus

Related Concept Videos

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