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1. Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss
作者：Sandra Iossa (1) (2) r> Valerio Costa (3) r> Virginia Corvino (4) r> Gennaro Auletta (4) r> Luigi Barruffo (4) r> Stefania Cappellani (5) r> Carlo Ceglia (2) r> Giovanni Cennamo (6) r> Adamo Pio D鈥橝damo (5) (7) r> Alessandra D鈥橝mico (8) r> Nilde Di Paolo (8) r> Raimondo Forte (9) r> Paolo Gasparini (5) (7) r> Carla Laria (4) r> Barbara Lombardo (1) (2) r> Rita Malesci (4) r> Andrea Vitale (10) r> Elio Marciano (4) r> Annamaria Franz猫 (2) (4) r>r>1. DMMBM ; Universit脿 di Napoli 鈥淔ederico II鈥? Naples ; Italy r> 2. Ceinge Biotecnologie Avanzate ; Naples ; Italy r> 3. IGB 鈥淎. Buzzati Traverso鈥? CNR ; Naples ; Italy r> 4. Istituto di Audiologia ; Dipartimento di Neuroscienze ; Scienze Riproduttive e Odontostomatologiche ; Universit脿 di Napoli 鈥淔ederico II鈥? Naples ; Italy r> 5. Institute for Maternal and Child Health - IRCCS 鈥淏urlo Garofolo鈥? Trieste ; Italy r> 6. Dipartimento di Oftalmologia ; Universit脿 di Napoli 鈥淔ederico II鈥? Naples ; Italy r> 7. University of Trieste ; Trieste ; Italy r> 8. Dipartimento di Scienze Biomediche Avanzate ; Universit脿 di Napoli 鈥淔ederico II鈥? Naples ; Italy r> 9. Dipartimento di Oftalmologia Pediatrica ; Universit脿 di Salerno ; Salerno ; Italy r> 10. Dipartimento di Scienze Motorie e del Benessere ; Universit脿 di Napoli 鈥淧arthenope鈥? Naples ; Italy r>
刊名：Molecular Cytogenetics
出版年：2015
2. Quality of Life (QoL) assessment in a cohort of patients with Phenylketonuria
作者：Chiara Cazzorla (10) r> Luca Cegolon (11) (12) r> Alessandro P Burlina (13) r> Andrea Celato (10) r> Pamela Massa (10) r> Laura Giordano (10) r> Giulia Polo (10) r> Aurora Daniele (14) (15) r> Francesco Salvatore (15) (16) r> Alberto B Burlina (10) r>r>10. Division of Inborn Metabolic Diseases ; Department of Pediatrics ; Padua University Hospital ; Padua ; Italy r> 11. Department of Cardiac ; Thoracic and Vascular Sciences ; Padua University Hospital ; Padua ; Italy r> 12. Department of Infectious Disease Epidemiology ; London School of Hygiene & Tropical Medicine ; London ; UK r> 13. Neurological Unit ; St. Bassiano Hospital ; Bassano del Grappa ; Italy r> 14. Department of Environmental Sciences ; Biological and Pharmaceutical Technologies ; Second University of Naples ; Caserta ; Italy r> 15. CEINGE-Biotecnologie Avanzate S.c.a.r.l. ; Naples ; Italy r> 16. IRCCS SDN-Foundation ; Naples ; Italy r>
刊名：BMC Public Health
出版年：2014
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