De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects

Bronchoalveolar cytokine profile differentiates Pulmonary Langerhans cell histiocytosis patients from other smoking-related interstitial lung diseases

Genome-wide profiling of non-smoking-related lung cancer cells reveals common RB1 rearrangements associated with histopathologic transformation in EGFR-mutant tumors

A pilot study on the feasibility of European harmonized human biomonitoring: Strategies towards a common approach, challenges and opportunities

Familial retinoblastoma due to intronic LINE-1 insertion causes aberrant and noncanonical mRNA splicing of the RB1 gene

Identification of genetic variants in pharmacokinetic genes associated with Ewing Sarcoma treatment outcome

miR-320c Regulates SERPINA1 Expression and Is Induced in Patients With Pulmonary Disease

Mice inflammatory responses to inhaled aerosolized LPS: effects of various forms of human alpha1-antitrypsin

NFATc3 controls tumour growth by regulating proliferation and migration of human astroglioma cells

New cis-Acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency