Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A

EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia.

European journal of neurology·2026

Awareness of bone strength in patients with neuromuscular disorders: ERN EURO-NMD clinician survey and European patient survey.

Journal of the neurological sciences·2025

Responsiveness and meaningful thresholds of PROMIS pain interference, fatigue, and physical function forms in adults with idiopathic inflammatory myopathies: Report from the OMERACT Myositis Working Group.

Seminars in arthritis and rheumatism·2023

Minocycline for sporadic and hereditary cerebral amyloid angiopathy (BATMAN): study protocol for a placebo-controlled randomized double-blind trial.

Trials·2023

Improved ROSC rates in out-of-hospital cardiac arrest patients after introduction of a text message alert system for trained volunteers.

Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation·2022

Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene.

Clinical neurology and neurosurgery·2021

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.

Human molecular genetics·2026

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Human molecular genetics·2026

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

Human molecular genetics·2026

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Human molecular genetics·2026

A patient-derived mouse model reproduces molecular, neurological, and sleep symptoms of SHINE syndrome.

Human molecular genetics·2026

The potential regulatory relationship between hsa_circ_0000973 and MBOAT2 in hypertriglyceridemia with abnormal glucose metabolism.

Human molecular genetics·2026

Quality assessment of YouTube™ videos on gingival recession and its management: A cross-sectional analysis of content reliability and educational value.

Journal of Indian Society of Periodontology·2026

Finite element analysis in dentistry: a comprehensive narrative review of biomechanical principles, clinical applications, and future perspectives.

Frontiers in dental medicine·2026

A regenerative strategy for vital pulp therapy: Platelet-rich fibrin augments stem cell viability and pluripotency in bioactive cement environments.

Biochemistry and biophysics reports·2026

A dual-matrix technique for direct composite veneers using liquid dam and pull-through contouring: a case report.

Frontiers in dental medicine·2026

Early healing of soft tissue following alveolar ridge preservation according to the sealing material: a retrospective clinical study.

Journal of periodontal & implant science·2026

Effect of silane treatment and resin cement type on bond strength to three-dimensional printed restorative resin: an in vitro experimental study.

Restorative dentistry & endodontics·2026

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Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A

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