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Cardiology in the Young|May 20, 2022
Anatomically corrected malposition of the great arteries (S,L,D) with mutation of Nodal geneCarolina Putotto, Elio Caruso, Bruno Marino, et al.
American Journal of Medical Genetics. Part A|December 8, 2015
Gershoni-Baruch syndrome: First report of a surviving childLaura Valfrè, Anwar Baban, Maria Cristina Digilio, et al.
American Journal of Medical Genetics. Part A|December 31, 2021
Congenital heart defects in molecularly confirmed KBG syndrome patientsMaria Cristina Digilio, Giulio Calcagni, Maria Gnazzo, et al.
European Journal of Medical Genetics|January 1, 2008
Genotypes and phenotypes of Joubert syndrome and related disordersEnza Maria Valente, Francesco Brancati, Bruno Dallapiccola
International Journal of Cardiology|March 3, 2007
Deletion 22q11 and isolated congenital heart diseaseM Cristina Digilio, Bruno Marino, Bruno Dallapiccola
Handbook of Clinical Neurology|April 30, 2013
Joubert syndrome and related disordersEnza Maria Valente, Bruno Dallapiccola, Enrico Bertini
Orphanet Journal of Rare Diseases|July 10, 2010
Joubert Syndrome and related disordersFrancesco Brancati, Bruno Dallapiccola, Enza Maria Valente
The Lancet. Neurology|November 15, 2008
Genetic testing for paediatric neurological disordersEnza Maria Valente, Alessandro Ferraris, Bruno Dallapiccola
American Journal of Medical Genetics. Part A|May 14, 2011
The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblingsMaria Lisa Dentici, Rita Mingarelli, Bruno Dallapiccola
American Journal of Medical Genetics. Part A|December 22, 2015
Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature reviewGiulio Calcagni, Anwar Baban, Enrica De Luca, et al.
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