Mosaicism in Alport syndrome with genetic counselling

ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

Genetics in medicine open·2024

A new knockin mouse carrying the E364X patient mutation for CDKL5 deficiency disorder: neurological, behavioral and molecular profiling.

Heliyon·2024

Randomized clinical trial "olfactory dysfunction after COVID-19: olfactory rehabilitation therapy vs. intervention treatment with Palmitoylethanolamide and Luteolin": preliminary results.

European review for medical and pharmacological sciences·2021

Immunological fingerprint of 4CMenB recombinant antigens via protein microarray reveals key immunosignatures correlating with bactericidal activity.

Nature communications·2020

Non-collagen genes role in digenic Alport syndrome.

BMC nephrology·2019

Human protective response induced by meningococcus B vaccine is mediated by the synergy of multiple bactericidal epitopes.

Scientific reports·2018

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Journal of medical genetics·2026

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Journal of medical genetics·2026

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Journal of medical genetics·2026

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Journal of medical genetics·2026

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Journal of medical genetics·2026

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

Journal of medical genetics·2026

Development and validation of a blood-based diagnostic model for pulmonary tuberculosis combining GBP5 expression and routine laboratory indicators.

Medicine·2026

Clinical efficacy of AI-navigated transperineal MRI-TRUS fusion biopsy for prostate cancer diagnosis: A retrospective cohort study.

Medicine·2026

Cost-Effectiveness of Thyroid Nodule Molecular Testing in Manitoba.

Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale·2026

An explainable hybrid SMPR-Net-XGBoost framework for automated lupus nephritis detection using medical image analysis.

International urology and nephrology·2026

Trends in Medicare Part B Fee-for-Service Billing of Diagnostic Flexible Laryngoscopy and Videolaryngostroboscopy by Provider Type, 2015-2023.

Journal of voice : official journal of the Voice Foundation·2026

Using collaborative leadership and interdisciplinary pathways towards achieving national recommendations. Excellent results from 1884 rapid MRI scans for 'suspected scaphoid fracture'.

BMJ leader·2026

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Mosaicism in Alport syndrome with genetic counselling

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ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

A new knockin mouse carrying the E364X patient mutation for CDKL5 deficiency disorder: neurological, behavioral and molecular profiling.

Randomized clinical trial "olfactory dysfunction after COVID-19: olfactory rehabilitation therapy vs. intervention treatment with Palmitoylethanolamide and Luteolin": preliminary results.

Immunological fingerprint of 4CMenB recombinant antigens via protein microarray reveals key immunosignatures correlating with bactericidal activity.

Non-collagen genes role in digenic Alport syndrome.

Human protective response induced by meningococcus B vaccine is mediated by the synergy of multiple bactericidal epitopes.

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

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Mosaicism in Alport syndrome with genetic counselling

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