Expanding the limits of the Fryns syndrome

Universal Presence of Gene/Variant Nomenclature Errors in Journal Manuscript Submissions.

Clinical chemistry·2026

A scalable approach to resolving variants of uncertain significance.

bioRxiv : the preprint server for biology·2026

One SQ HEDGES DNA vector only dose produces durable hGLA or anti-SARS-CoV-2 mAb therapeutic serum protein levels.

PloS one·2025

Genetic Diagnosis of Familial Hypercholesterolemia in Residual Newborn Dried Blood Spots.

JAMA cardiology·2025

A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States.

Journal of neuromuscular diseases·2025

A retrospective cohort study of the economic burden of Pompe disease in patients treated with enzyme replacement therapy in the United States.

Journal of medical economics·2025

Expansion of the Clinical and Molecular Spectrum of LINS1-Associated Disease.

American journal of medical genetics. Part A·2026

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome.

American journal of medical genetics. Part A·2026

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood.

American journal of medical genetics. Part A·2026

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome.

American journal of medical genetics. Part A·2026

The Importance of Familial Co-segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease.

American journal of medical genetics. Part A·2026

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders.

American journal of medical genetics. Part A·2026

[Immediate and long-term results of abdominal aortic arthroplasty for aneurysms].

Angiologiia i sosudistaia khirurgiia = Angiology and vascular surgery·2026

Comparison of anterior-only and combined anterior-posterior approaches for complex acetabular fractures.

Injury·2026

Transoesophageal echocardiography as complementary imaging during pulsed field ablation of atrial fibrillation: a practical step-by-step approach.

European heart journal. Imaging methods and practice·2026

A multimodal adjoint-state formulation of Quantitative Photoacoustic Tomography with external acoustic sources.

Photoacoustics·2026

Staged surgical management of multiple arterial aneurysms in aneurysms osteoarthritis syndrome with a novel SMAD3 mutation.

Journal of vascular surgery cases and innovative techniques·2026

A thermophone-based FM sonar for airborne ultrasonic sensing under drone flight noise.

Scientific reports·2026

Related Experiment Videos

Expanding the limits of the Fryns syndrome

Related Concept Videos

Universal Presence of Gene/Variant Nomenclature Errors in Journal Manuscript Submissions.

A scalable approach to resolving variants of uncertain significance.

One SQ HEDGES DNA vector only dose produces durable hGLA or anti-SARS-CoV-2 mAb therapeutic serum protein levels.

Genetic Diagnosis of Familial Hypercholesterolemia in Residual Newborn Dried Blood Spots.

A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States.

A retrospective cohort study of the economic burden of Pompe disease in patients treated with enzyme replacement therapy in the United States.

Expansion of the Clinical and Molecular Spectrum of LINS1-Associated Disease.

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome.

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood.

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome.

The Importance of Familial Co-segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease.

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders.

[Immediate and long-term results of abdominal aortic arthroplasty for aneurysms].

Comparison of anterior-only and combined anterior-posterior approaches for complex acetabular fractures.

Transoesophageal echocardiography as complementary imaging during pulsed field ablation of atrial fibrillation: a practical step-by-step approach.

A multimodal adjoint-state formulation of Quantitative Photoacoustic Tomography with external acoustic sources.

Staged surgical management of multiple arterial aneurysms in aneurysms osteoarthritis syndrome with a novel SMAD3 mutation.

A thermophone-based FM sonar for airborne ultrasonic sensing under drone flight noise.

Related Experiment Videos

Expanding the limits of the Fryns syndrome

Related Concept Videos

Related Articles