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Human Genetics|January 1, 1985
Frequency of consanguineous marriages among parents and grandparents of Down patientsM Devoto, L Prosperi, F D Bricarelli, et al.Journal of Lipid Research|August 1, 1994
Partial duplication of the EGF precursor homology domain of the LDL-receptor protein causing familial hypercholesterolemia (FH-Salerno)S Bertolini, D D Patel, D A Coviello, et al.Molecular Genetics and Metabolism|April 11, 2017
Generation of induced Pluripotent Stem Cells as disease modelling of NLSDMD Tavian, S Missaglia, M Castagnetta, et al.Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|September 30, 2010
A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patientsLucy Costantino, Laura Claut, Valentina Paracchini, et al.Human Mutation|July 23, 2003
Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected]Paola Origone, Carlo Bellini, Debora Sambarino, et al.European Journal of Human Genetics : EJHG|March 30, 2019
Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countriesThomas Liehr, Isabel M Carreira, Zsofia Balogh, et al.Journal of the American College of Cardiology|March 1, 1997
Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin geneD A Coviello, B J Maron, P Spirito, et al.JIMD Reports|February 23, 2013
Cystic fibrosis newborn screening: distribution of blood immunoreactive trypsinogen concentrations in hypertrypsinemic neonatesValentina Paracchini, Manuela Seia, Sara Raimondi, et al.Differentiation; Research in Biological Diversity|April 3, 2012
Human chorionic villus mesenchymal stromal cells reveal strong endothelial conversion propertiesViviana Meraviglia, Matteo Vecellio, Annalisa Grasselli, et al.The Journal of Clinical Endocrinology and Metabolism|February 1, 1996
Androgen and estrogen receptors are present in primary cultures of human synovial macrophagesM Cutolo, S Accardo, B Villaggio, et al.Pageof 13