Showing results (1-10 of 30) with videos related to
Sort By:
Pageof 3
Clinical Genetics|October 10, 2002
Hair as a diagnostic tool in dysmorphologyM Silengo, M Valenzise, L Sorasio, et al.Clinical Genetics|July 4, 2015
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicineA Mussa, S Russo, L Larizza, et al.Clinical Dysmorphology|October 29, 2002
A possible relationship between Beckwith-Wiedemann syndrome and prune belly syndromeM Silengo, L Barberis, G B Ferrero, et al.Clinical and Experimental Dermatology|August 12, 2009
A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without cleftingL Sorasio, E Biamino, E Garelli, et al.Genomics|October 1, 1993
A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short armW C Lee, G B Ferrero, A C Chinault, et al.Pediatric Research|November 1, 1991
Tetrahydrobiopterin loading test in hyperphenylalaninemiaA Ponzone, O Guardamagna, S Ferraris, et al.Pediatric Research|February 1, 1993
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatmentA Ponzone, O Guardamagna, I Dianzani, et al.Journal of Medical Genetics|March 1, 1993
Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutationI Dianzani, C Camaschella, G Saglio, et al.Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society|September 26, 2001
Heart rate variability in childhood obesityG Martini, P Riva, F Rabbia, et al.Human Genetics|November 1, 1990
Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in ItalyI Dianzani, M Devoto, C Camaschella, et al.Pageof 3