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American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|August 1, 1997
Rapid DNA-based prenatal diagnosis by genetic linkage in three families with Alport's syndromeA E Turco, E Bresin, S Rossetti, et al.
American Journal of Medical Genetics|August 22, 1997
Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variabilityF Zolezzi, M Valli, M Clementi, et al.
Human Heredity|February 25, 2000
Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of italian families with Marfan syndromeM Mottes, S Mirandola, F Rigatelli, et al.
Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [Et Al.]|July 18, 2002
CFTR and cationic trypsinogen mutations in idiopathic pancreatitis and neonatal hypertrypsinemiaM Gomez Lira, C Patuzzo, C Castellani, et al.
Chest|May 16, 2000
Tumor necrosis factor gene complex in COPD and disseminated bronchiectasisC Patuzzo, L S Gilè, M Zorzetto, et al.
Human Molecular Genetics|August 1, 1995
A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian familyA E Turco, S Rossetti, E Bresin, et al.
Molecular and Cellular Probes|April 9, 2001
A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff diseaseM Gomez-Lira, M Mottes, C Perusi, et al.
Human Genetics|January 28, 1999
Complete mutational screening of the CFTR gene in 120 patients with pulmonary diseaseC Bombieri, M Benetazzo, A Saccomani, et al.
Human Genetics|May 26, 1998
Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutationM Gomez-Lira, C Perusi, M Mottes, et al.
ESMO Open|March 1, 2021
The EMA review of trastuzumab emtansine (T-DM1) for the adjuvant treatment of adult patients with HER2-positive early breast cancerJ Delgado, C Vleminckx, S Sarac, et al.
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