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American Journal of Human Biology : the Official Journal of the Human Biology Council|May 20, 2017
Analysis of apoB, HLADQ alpha, and D1S80 polymorphisms in the Italian population using the polymerase chain reactionGiuseppe Novelli, Aldo Spinella, Massimo Gennarelli, et al.
American Journal of Medical Genetics. Part A|July 17, 2008
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasiaSofia Douzgou, Katarina Lehmann, Rita Mingarelli, et al.
The Journal of Pediatrics|May 21, 2003
Glutathione metabolism and antioxidant enzymes in children with Down syndromeAnna Pastore, Giulia Tozzi, Laura Maria Gaeta, et al.
Molecular Genetics & Genomic Medicine|March 15, 2018
Neurobehavioral features in individuals with Kabuki syndromeCristina Caciolo, Paolo Alfieri, Giorgia Piccini, et al.
Brain Sciences|November 25, 2023
A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic SpectrumVito Luigi Colona, Enrico Bertini, Maria Cristina Digilio, et al.
European Journal of Human Genetics : EJHG|November 6, 2014
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromasValentina Pinna, Valentina Lanari, Paola Daniele, et al.
Pediatric Research|April 16, 2014
The human gut microbiota: a dynamic interplay with the host from birth to senescence settled during childhoodLorenza Putignani, Federica Del Chierico, Andrea Petrucca, et al.
European Journal of Pediatrics|November 9, 2006
Familial recurrence of congenital heart disease: an overview and review of the literatureGiulio Calcagni, M Cristina Digilio, Anna Sarkozy, et al.
American Journal of Medical Genetics. Part A|January 19, 2007
Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) associationMarco Castori, Sofia Douzgou, Evelina Silvestri, et al.
European Journal of Human Genetics : EJHG|May 26, 2006
Genetic testing in Italy, year 2004Bruno Dallapiccola, Isabella Torrente, Arnaldo Morena, et al.
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