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International Journal of Pediatric Otorhinolaryngology|June 22, 2012
Novel mutations in the SLC26A4 geneMicol Busi, Alessandro Castiglione, Marina Taddei Masieri, et al.
Parkinsonism & Related Disorders|October 28, 2021
Parkinson's disease-dementia in trans LRP10 and GBA variants: Response to deep brain stimulationMarcella Neri, Arianna Braccia, Celeste Panteghini, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|February 2, 2006
Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start pointPaola Rimessi, Pietro Spitali, Yukio Ando, et al.
Hemoglobin|September 16, 2014
Characterization of Hb Calvino (HBB: c.406G > A): a new silent β-globin gene variant found in coexistence with α-thalassemia in a family of African originMaria Marsella, Gianluca Salvagno, Bernadetta Dolcini, et al.
Hormone Research in Paediatrics|January 24, 2015
Thyroid function in Rett syndromeStefano Stagi, Loredana Cavalli, Laura Congiu, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 17, 2015
Paternal germline mosaicism in collagen VI related myopathiesAnnarita Armaroli, Cecilia Trabanelli, Chiara Scotton, et al.
Pediatrics|August 11, 2017
Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP MalesFrancesca Fusco, Matilde Immacolata Conte, Andrea Diociaiuti, et al.
Prenatal Diagnosis|May 10, 2006
Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosisPaolo Prontera, Barbara Buldrini, Vincenzo Aiello, et al.
Muscle & Nerve|May 15, 2012
Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-upLuciano Merlini, Monia Gennari, Elisabetta Malaspina, et al.
Human Gene Therapy|September 4, 2014
Translational and regulatory challenges for exon skipping therapiesAnnemieke Aartsma-Rus, Alessandra Ferlini, Nathalie Goemans, et al.
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