Somatic mosaicism and clinical variation in tuberous sclerosis complex

Clinical-genetic analysis of selected genes involved in the development of the human skeleton in 128 Czech patients with suspected congenital skeletal abnormalities.

Gene·2023

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

Hereditary cancer in clinical practice·2022

The diagnosis and management of CMV colitis in IBD patients shows high practice variation: a national survey among gastroenterologists.

Scandinavian journal of gastroenterology·2022

A head-to-head comparison of conjugation methods for VHHs: Random maleimide-thiol coupling versus controlled click chemistry.

International journal of pharmaceutics: X·2019

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Nature communications·2017

Male patients affected by mosaic PCDH19 mutations: five new cases.

Neurogenetics·2017

Multivessel coronary artery bypass grafting via small thoracotomy versus sternotomy (MIST): an investigator-initiated, international, open-label, randomised controlled trial.

Lancet (London, England)·2026

Efficacy and safety of once-daily oral zenagamtide, a novel unimolecular GLP-1 and amylin receptor agonist, in adults with type 2 diabetes: a multicentre, randomised, parallel, double-blind, placebo-controlled, dose-finding, phase 2 trial.

Lancet (London, England)·2026

Psoriasis.

Lancet (London, England)·2026

Deramiocel heart-derived cellular therapy in advanced Duchenne muscular dystrophy (HOPE-3): a phase 3, randomised, double-blind, placebo-controlled trial.

Lancet (London, England)·2026

Ralinepag for the treatment of pulmonary arterial hypertension (ADVANCE OUTCOMES): a randomised, double-blind, placebo-controlled phase 3 study.

Lancet (London, England)·2026

Oral step-down, optimal drug, and total duration of antibiotic treatment in African children hospitalised with severe community-acquired pneumonia (PediCAP): a factorial randomised controlled trial.

Lancet (London, England)·2026

Prevention is Missing Its Moment: Community Colleges as Essential Infrastructure for Life-Course Cancer Prevention.

Journal of prevention (2022)·2026

Oncogenic viruses in the genomic era: Integration, instability, and cancer evolution.

Dental and medical problems·2026

Obesity-induced metabolic reprogramming of the tumor immune microenvironment: mechanisms, spatial niches, and immunotherapy response.

Frontiers in immunology·2026

Connexin50 hemichannels are opened by CO2: implications for lens physiology.

Frontiers in physiology·2026

Family History and Adherence to Ideal Cardiovascular Health: Counteracting Impacts on the Onset Age of Type 2 Diabetes and Subsequent Cardiovascular Disease Risk.

Journal of diabetes·2026

Usability and relevance of specialized population-based cancer registry data in externally controlled trials.

Journal of clinical epidemiology·2026

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Somatic mosaicism and clinical variation in tuberous sclerosis complex

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Clinical-genetic analysis of selected genes involved in the development of the human skeleton in 128 Czech patients with suspected congenital skeletal abnormalities.

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

The diagnosis and management of CMV colitis in IBD patients shows high practice variation: a national survey among gastroenterologists.

A head-to-head comparison of conjugation methods for VHHs: Random maleimide-thiol coupling versus controlled click chemistry.

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

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