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M Silengo

Showing results (41-50 of 52) with videos related to

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Prenatal Diagnosis|July 12, 2011
Prenatal features of Noonan syndrome: prevalence and prognostic valueG Baldassarre, A Mussa, A Dotta, et al.
Clinical Genetics|January 23, 2010
Eyebrow anomalies as a diagnostic sign of genomic disordersM Silengo, E Belligni, C Molinatto, et al.
American Journal of Medical Genetics|May 9, 2001
Fontaine-Farriaux craniosynostosis: second report in the literatureM Priolo, T De Toni, M Baffico, et al.
International Journal of Molecular Medicine|July 30, 1999
Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndromeM Seri, S Melchionda, S Dreyer, et al.
American Journal of Human Genetics|February 11, 1999
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophyM Seri, R Cusano, P Forabosco, et al.
Journal of Medical Genetics|June 17, 2003
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13N V Morgan, C Bacchelli, P Gissen, et al.
Human Mutation|January 1, 1997
Frequency of RET mutations in long- and short-segment Hirschsprung diseaseM Seri, L Yin, V Barone, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 17, 1999
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutationsC T Basson, T Huang, R C Lin, et al.
American Journal of Medical Genetics. Part A|March 3, 2005
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowthM Cecconi, F Forzano, D Milani, et al.
American Journal of Medical Genetics. Part A|February 14, 2009
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literatureL Garavelli, M Zollino, P Cerruti Mainardi, et al.
Pageof 6

Showing results (41-50 of 52) with videos related to

Sort By:
Pageof 6
Prenatal Diagnosis|July 12, 2011
Prenatal features of Noonan syndrome: prevalence and prognostic valueG Baldassarre, A Mussa, A Dotta, et al.
Clinical Genetics|January 23, 2010
Eyebrow anomalies as a diagnostic sign of genomic disordersM Silengo, E Belligni, C Molinatto, et al.
American Journal of Medical Genetics|May 9, 2001
Fontaine-Farriaux craniosynostosis: second report in the literatureM Priolo, T De Toni, M Baffico, et al.
International Journal of Molecular Medicine|July 30, 1999
Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndromeM Seri, S Melchionda, S Dreyer, et al.
American Journal of Human Genetics|February 11, 1999
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophyM Seri, R Cusano, P Forabosco, et al.
Journal of Medical Genetics|June 17, 2003
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13N V Morgan, C Bacchelli, P Gissen, et al.
Human Mutation|January 1, 1997
Frequency of RET mutations in long- and short-segment Hirschsprung diseaseM Seri, L Yin, V Barone, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 17, 1999
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutationsC T Basson, T Huang, R C Lin, et al.
American Journal of Medical Genetics. Part A|March 3, 2005
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowthM Cecconi, F Forzano, D Milani, et al.
American Journal of Medical Genetics. Part A|February 14, 2009
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literatureL Garavelli, M Zollino, P Cerruti Mainardi, et al.
Pageof 6