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The Journal of Molecular Diagnostics : JMD|November 2, 2013
A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysisMarina Grasso, Elles M J Boon, Stela Filipovic-Sadic, et al.American Journal of Medical Genetics. Part A|December 25, 2015
Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short statureDavid J Bunyan, Maria Baffico, Lucia Capone, et al.Human Mutation|July 12, 2002
Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patientsPaola Origone, Alessandro De Luca, Carlo Bellini, et al.Genes|September 28, 2024
Impact of NSD1 Alternative Transcripts in Actin Filament Formation and Cellular Division Pathways in FibroblastsGiuseppina Conteduca, Davide Cangelosi, Chiara Baldo, et al.European Journal of Human Genetics : EJHG|July 13, 2023
EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmiasJesse B Hayesmoore, Zahurul A Bhuiyan, Domenico A Coviello, et al.Parkinsonism & Related Disorders|October 17, 2009
alpha-Synuclein multiplication analysis in Italian familial Parkinson diseaseFrancesca Sironi, Luca Trotta, Angelo Antonini, et al.Journal of Applied Genetics|June 20, 2013
First-trimester euploid miscarriages analysed by array-CGHChiara Donatella Viaggi, S Cavani, M Malacarne, et al.European Journal of Human Genetics : EJHG|September 19, 2013
Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunctionDario Degiorgio, Paola A Corsetto, Angela M Rizzo, et al.Epilepsia|December 5, 2012
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutationsLaura Canafoglia, Elena Gennaro, Giuseppe Capovilla, et al.European Journal of Gastroenterology & Hepatology|June 1, 1996
Epidemiology of cholelithiasis in southern Italy. Part II: Risk factorsG Misciagna, C Leoci, V Guerra, et al.Pageof 13