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Clinical Chemistry and Laboratory Medicine|November 17, 2010
A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patientsSergio Crovella, Ludovica Segat, Annalisa Amato, et al.The Journal of Rheumatology|September 17, 2017
Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic CharacterizationDenise Lasigliè, Anna Mensa-Vilaro, Denise Ferrera, et al.Frontiers in Endocrinology|December 3, 2021
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz WorkshopRuben D de Ruiter, Bernard J Smilde, Gerard Pals, et al.The New England Journal of Medicine|July 19, 2013
Mutations in DSTYK and dominant urinary tract malformationsSimone Sanna-Cherchi, Rosemary V Sampogna, Natalia Papeta, et al.Nature|September 2, 2011
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locusSébastien Jacquemont, Alexandre Reymond, Flore Zufferey, et al.Pageof 14