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The Journal of Pediatrics|January 1, 1994
A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblastsA B Burlina, C Dionisi-Vici, M J Bennett, et al.Human Genetics|January 7, 1998
Clinical and genetic heterogeneity in Meckel syndromeP Paavola, R Salonen, A Baumer, et al.American Journal of Human Genetics|January 13, 2000
NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probesP Riva, L Corrado, F Natacci, et al.Lancet (London, England)|August 26, 1998
Risk of congenital anomalies near hazardous-waste landfill sites in Europe: the EUROHAZCON studyH Dolk, M Vrijheid, B Armstrong, et al.Human Genetics|January 1, 1981
The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical pictureA Schinzel, W Schmid, M Fraccaro, et al.Lancet (London, England)|February 7, 2002
Chromosomal congenital anomalies and residence near hazardous waste landfill sitesM Vrijheid, H Dolk, B Armstrong, et al.Cancer Research|November 11, 1998
STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancerN Resta, C Simone, C Mareni, et al.American Journal of Medical Genetics|September 20, 2000
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndromeM Zollino, C Di Stefano, G Zampino, et al.American Journal of Medical Genetics|November 15, 2000
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1A E Lin, P H Birch, B R Korf, et al.Human Mutation|April 24, 2001
Nine novel APC mutations in Italian FAP patientsN Resta, A Stella, F Susca, et al.Pageof 18