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International Journal of Clinical & Laboratory Research|January 1, 1995
Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassayF Sangiuolo, P Maceratesi, A Mesoraca, et al.American Journal of Medical Genetics|November 7, 1998
Congenital heart defect in sibs with discordant karyotypesM C Digilio, B Marino, S A Canepa, et al.Clinical Genetics|July 1, 1988
The phenotype of partial dup(7q) reconsidered: a report of five new casesA Forabosco, A Baroncini, L Dalpra, et al.Molecular Genetics and Metabolism|April 16, 1998
Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemiaP Maceratesi, N Daude, B Dallapiccola, et al.Acta Haematologica|January 1, 1985
Monitoring of pregnancies at risk for Fanconi's anemia by chorionic villi samplingB Dallapiccola, L Doria Lamba Carbone, G Ferranti, et al.American Journal of Diseases of Children (1960)|December 1, 1993
Risk of congenital heart defects in relatives of patients with atrioventricular canalM C Digilio, B Marino, M P Cicini, et al.Clinical Genetics|November 1, 1994
Patient with de novo 12p+ syndrome identified as dir dup (12) (p13) using subchromosomal painting libraries from somatic cell hybridsL Zelante, S Calvano, B Dallapiccola, et al.Human Genetics|January 1, 1979
Interstitial deletion 13q syndromes: a report on two unrelated patientsM Serena-Lungarotti, A Calabro, G Mariotti, et al.Prenatal Diagnosis|November 1, 1989
Prenatal diagnosis of adult polycystic kidney disease with DNA markers on chromosome 16 and the genetic heterogeneity problemG Novelli, M Frontali, D Baldini, et al.Journal of Medical Genetics|December 10, 1997
Radial aplasia and chromosome 22q11 deletionM C Digilio, A Giannotti, B Marino, et al.Pageof 34