A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis

Mother and daughter with Kenny-Caffey syndrome: the adult phenotype.

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Asymptomatic bacteriuria in candidates for active treatment of renal stones: results from an international multicentric study on more than 2600 patients.

Urolithiasis·2022

Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who?

Journal of community genetics·2022

Survey on patients' organisations' knowledge and position paper on screening for inherited neuromuscular diseases in Europe.

Orphanet journal of rare diseases·2021

Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains.

Science advances·2019

Predictors of cardiac arrhythmic events in non coronary artery disease patients.

BMC cardiovascular disorders·2019

Insights Into RP2-Associated Retinopathy: From Molecular Basis to Clinical Translation.

Human mutation·2026

Next-Generation Sequencing to Identify Genetic Causes of Chinese Patients Affected With Non-retinal Developmental Eye Disorders.

Human mutation·2026

Rapid and Sensitive Detection of USP26 Cluster Variants Based on CRISPR/Cas12a.

Human mutation·2026

VarSim: A Python Toolkit for HGVS Variant Description Validation, Normalization, and Representation Conversion.

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Somatic Mutation-Informed Transcriptional Architecture of Hepatocellular Carcinoma: A Multiomics Study Centered on TP53.

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Pathogenic Mechanisms of Two Novel Variants in the GJB1 Gene.

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Adamantinoma-like Ewing Sarcoma: An Underrecognized Mimicker in the Head and Neck With Divergent Clinicopathologic Features from Ewing Sarcoma.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc·2026

Corrigendum to "Novel 360° lumbar arthroplasty: Surgical technique and procedural details" [North American Spine Society Journal (NASSJ) 25 (2026) 100863].

North American Spine Society journal·2026

Rare posterior wall acetabular fracture extending to iliac crest managed via extended iliofemoral approach: A case report.

Trauma case reports·2026

Concurrent RUNX1::MECOM and RUNX1::PRDM16 Fusions from a Novel Genomic Breakpoint: First Report of a Dual-Fusion Mechanism in Acute Myeloid Leukemia.

OncoTargets and therapy·2026

Identification of the Novel HLA-DQB1*02:281 Allele by Third-Generation Sequencing.

HLA·2026

Characterisation of the Novel HLA-DRB3*02:251 Allele by Sequencing-Based Typing.

HLA·2026

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A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis

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