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American Journal of Medical Genetics|December 31, 1997
Progeroid syndrome with characteristic facial appearance and hand anomalies in father and sonA Giannotti, M C Digilio, R Mingarelli, et al.Journal of Medical Genetics|June 1, 1987
Ring 20 chromosome phenotypeB Porfirio, M G Valorani, A Giannotti, et al.Clinical Genetics|September 1, 1995
Joint dislocation and cerebral anomalies are consistently associated with oral-facial-digital syndrome type IVM C Digilio, A Giannotti, G Pagnotta, et al.Clinical Dysmorphology|October 1, 1995
Sporadic trichodental dysplasia with microcephaly and mental retardationA Giannotti, M C Digilio, G Albertini, et al.Human Mutation|February 22, 2002
Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangismM Mangino, E Flex, M C Digilio, et al.Journal of Medical Genetics|March 2, 1999
Microdeletion 22q11 and oesophageal atresiaM C Digilio, B Marino, P Bagolan, et al.Skeletal Radiology|July 7, 2005
Quantitative ultrasound of the hand phalanges in a cohort of monozygotic twins: influence of genetic and environmental factorsG Guglielmi, F de Terlizzi, I Torrente, et al.Annales De Genetique|January 1, 1980
Evidence for the assignment of GUK 1 gene locus to 1q32 leads to q43 segment from gene dosage effectB Dallapiccola, M S Lungarotti, A Falorni, et al.Prenatal Diagnosis|May 1, 1989
First-trimester prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: report of eight casesP Gasparini, G Novelli, A Savoia, et al.Journal of Medical Genetics|February 1, 1985
Discordant sex in one of three monozygotic tripletsB Dallapiccola, C Stomeo, G Ferranti, et al.Pageof 38