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Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences|August 6, 1999
CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different lociM Frontali, A Novelletto, G Annesi, et al.
Cytogenetic and Genome Research|October 4, 2003
Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disordersE Mantuano, L Veneziano, C Jodice, et al.
Journal of Medical Genetics|April 1, 1993
Coarctation of the aorta, interrupted aortic arch, and hypoplastic left heart syndrome in three generationsS Gerboni, G Sabatino, R Mingarelli, et al.
American Journal of Medical Genetics|August 1, 1989
Autosomal recessive form of whistling face syndrome in sibsB Dallapiccola, A Giannotti, A Lembo, et al.
Acta Geneticae Medicae Et Gemellologiae|January 1, 1997
From genetic research into clinical practiceB Dallapiccola, I Torrente, R Mingarelli, et al.
Prenatal Diagnosis|May 1, 1987
First trimester studies of a fetus at risk for triose phosphate isomerase deficiencyB Dallapiccola, G Novelli, C Cuoco, et al.
Gene Therapy|May 29, 2002
Extrachromosomal genes: a powerful tool in gene targeting approachesA Colosimo, V Guida, G Palka, et al.
Human Genetics|July 7, 1976
Complex translocation t(9;21)(9;22)(q12p13)(q12q11) in the family of a child with 9p trisomy syndromeB Dallapiccola, G Bollea, C Mazzilli, et al.
Images in Paediatric Cardiology|February 28, 2012
Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome)Mc Digilio, B Marino, R Capolino, et al.
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