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Genetic Counseling (Geneva, Switzerland)|April 7, 1999
Congenital heart defects in patients with DiGeorge/velocardiofacial syndrome and del22q11B Marino, M C Digilio, A Toscano, et al.
American Journal of Medical Genetics|March 1, 1992
New case of Bartsocas-Papas syndrome surviving at 20 monthsA Giannotti, M C Digilio, L Standoli, et al.
The Journal of Pediatrics|December 10, 1999
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canalB Marino, M C Digilio, A Toscano, et al.
American Journal of Medical Genetics|February 7, 1998
Intrafamilial variability of Pfeiffer-type cardiocranial syndromeM C Digilio, B Marino, U Borzaga, et al.
European Journal of Human Genetics : EJHG|October 20, 2000
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3F Sangiuolo, E Bruscia, F Capon, et al.
Cell Biochemistry and Function|June 24, 1998
Genomic instability associated with myotonic dystrophy does not involve p53 expression and activityM Gennarelli, M Lucarelli, P Amicucci, et al.
Human Genetics|January 1, 1985
Effect of oxidants and antioxidants on chromosomal breakage in Fanconi anemia lymphocytesB Dallapiccola, B Porfirio, V Mokini, et al.
Gene|September 28, 2001
Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L)A Botta, C Tandoi, G Fini, et al.
Prenatal Diagnosis|March 1, 1995
Fetal translocation between chromosomes 2, 18, and 21 resolved by fishI Delaroche, M Sabani, G Calabrese, et al.
Biochemical and Biophysical Research Communications|November 13, 1995
Different expression of the myotonin protein kinase gene in discrete areas of human brainM Gennarelli, M Lucarelli, G Zelano, et al.
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