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M Silengo

Showing results (21-30 of 52) with videos related to

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Pediatric Radiology|July 6, 2000
Dandy-Walker complex in a child with Jeune's asphyxiating thoracic dystrophyM Silengo, P Gianino, P Longo, et al.
Minerva Pediatrica|January 31, 1981
[Rhizomelic type of chondrodysplasia punctata in 2 sisters. Evidence for hereditary transmission of a recessive autosomic type]C Fabris, D Licata, C Martano, 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.
American Journal of Medical Genetics|November 1, 1993
Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly: report of a new patient with additional findingsM Silengo, M Lerone, G Romeo, et al.
Prenatal Diagnosis|September 18, 2001
Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X geneM Fichera, M Silengo, A Spalletta, et al.
Fetal Diagnosis and Therapy|March 8, 2000
De novo partial duplication of 3q and distal deletion of 20p in a 15-week abort us with omphaloceleR Cinti, G Botta, V Asnaghi, et al.
Human Mutation|January 1, 1997
Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptorM Seri, A Bolino, L J Galietta, et al.
Human Genetics|October 1, 1991
Multiple sutural synostosis and congenital cataractsM Lerone, G Romeo, E Conrad, et al.
Journal of Medical Genetics|February 7, 2001
Molecular characterisation of a supernumerary ring chromosome in a patient with VATER associationR Cinti, M Priolo, M Lerone, et al.
Journal of Medical Genetics|March 21, 1998
Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome?M Silengo, L Silvestro, G Capizzi, et al.
Pageof 6

Showing results (21-30 of 52) with videos related to

Sort By:
Pageof 6
Pediatric Radiology|July 6, 2000
Dandy-Walker complex in a child with Jeune's asphyxiating thoracic dystrophyM Silengo, P Gianino, P Longo, et al.
Minerva Pediatrica|January 31, 1981
[Rhizomelic type of chondrodysplasia punctata in 2 sisters. Evidence for hereditary transmission of a recessive autosomic type]C Fabris, D Licata, C Martano, 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.
American Journal of Medical Genetics|November 1, 1993
Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly: report of a new patient with additional findingsM Silengo, M Lerone, G Romeo, et al.
Prenatal Diagnosis|September 18, 2001
Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X geneM Fichera, M Silengo, A Spalletta, et al.
Fetal Diagnosis and Therapy|March 8, 2000
De novo partial duplication of 3q and distal deletion of 20p in a 15-week abort us with omphaloceleR Cinti, G Botta, V Asnaghi, et al.
Human Mutation|January 1, 1997
Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptorM Seri, A Bolino, L J Galietta, et al.
Human Genetics|October 1, 1991
Multiple sutural synostosis and congenital cataractsM Lerone, G Romeo, E Conrad, et al.
Journal of Medical Genetics|February 7, 2001
Molecular characterisation of a supernumerary ring chromosome in a patient with VATER associationR Cinti, M Priolo, M Lerone, et al.
Journal of Medical Genetics|March 21, 1998
Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome?M Silengo, L Silvestro, G Capizzi, et al.
Pageof 6