Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease

Relationship of the Healthy Diet Characteristics Recommended by the 2021 ESC Guidelines with Vascular Events in Patients with Established CVD.

European journal of preventive cardiology·2025

25-Hydroxyvitamin D concentrations do not affect the humoral or cellular immune response following SARS-CoV-2 mRNA vaccinations.

Vaccine·2023

Real-world characteristics and outcomes of patients with intermediate high risk acute pulmonary embolism.

Acute medicine·2023

Development of a simple standardized scoring system for assessing large vessel vasculitis by 18F-FDG PET-CT and differentiation from atherosclerosis.

European journal of nuclear medicine and molecular imaging·2023

Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer.

Hereditary cancer in clinical practice·2022

Are patients accurate forecasters of their emotional response to medical conditions? A scoping review on affective forecasting.

BMJ open·2021

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

Journal of medical genetics·2026

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Journal of medical genetics·2026

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Journal of medical genetics·2026

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Journal of medical genetics·2026

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Genome-wide candidate signatures of divergent selection between broody Silkie and White Leghorn chickens revealed by high-density SNP genotyping.

British poultry science·2026

Successful radiofrequency catheter ablation of right-sided focal atrial tachycardia in a patient with Holt-Oram syndrome: a case report.

Frontiers in cardiovascular medicine·2026

SNP genotyping in Pseudotsuga menziesii and Pinus radiata using targeted genotyping-by-sequencing (GBS): improved Bayesian SNP calling using a beta-binomial distribution and other optimized input parameters.

BMC genomics·2026

Causal Effects of Lipoproteins and Lipids on Atrial Fibrillation: A Mendelian Randomization Study.

Lipids·2026

Dissecting the shared genetic architecture and biological mechanisms linking sleep traits and suicide attempts: from variants to genes.

Molecular psychiatry·2026

Different properties of loss-of-function between variants in the LIPH gene responsible for autosomal recessive woolly hair and further characterization of C3orf52.

Journal of dermatological science·2026

Related Experiment Videos

Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease

Related Concept Videos

Relationship of the Healthy Diet Characteristics Recommended by the 2021 ESC Guidelines with Vascular Events in Patients with Established CVD.

25-Hydroxyvitamin D concentrations do not affect the humoral or cellular immune response following SARS-CoV-2 mRNA vaccinations.

Real-world characteristics and outcomes of patients with intermediate high risk acute pulmonary embolism.

Development of a simple standardized scoring system for assessing large vessel vasculitis by 18F-FDG PET-CT and differentiation from atherosclerosis.

Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer.

Are patients accurate forecasters of their emotional response to medical conditions? A scoping review on affective forecasting.

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

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Genome-wide candidate signatures of divergent selection between broody Silkie and White Leghorn chickens revealed by high-density SNP genotyping.

Successful radiofrequency catheter ablation of right-sided focal atrial tachycardia in a patient with Holt-Oram syndrome: a case report.

SNP genotyping in Pseudotsuga menziesii and Pinus radiata using targeted genotyping-by-sequencing (GBS): improved Bayesian SNP calling using a beta-binomial distribution and other optimized input parameters.

Causal Effects of Lipoproteins and Lipids on Atrial Fibrillation: A Mendelian Randomization Study.

Dissecting the shared genetic architecture and biological mechanisms linking sleep traits and suicide attempts: from variants to genes.

Different properties of loss-of-function between variants in the LIPH gene responsible for autosomal recessive woolly hair and further characterization of C3orf52.

Related Experiment Videos

Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease

Related Concept Videos

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