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American Journal of Medical Genetics|August 22, 1997
Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variabilityF Zolezzi, M Valli, M Clementi, et al.American Journal of Medical Genetics|September 19, 1997
Use of record linkage between a statewide genetics service and a Birth Defects/Congenital Malformations Register to determine use of genetic counselling servicesJ Halliday, O Griffin, A Bankier, et al.American Journal of Medical Genetics|September 19, 1997
Microphthalmia, marked short stature, hearing loss, and developmental delay: extension of the phenotype of GOMBO syndrome?S A FarrellAmerican Journal of Medical Genetics|September 19, 1997
Melorheostosis in a patient with familial osteopoikilosisC E Butkus, V V Michels, N M Lindor, et al.American Journal of Medical Genetics|September 19, 1997
Family with "pure" hair-nail ectodermal dysplasiaM Barbareschi, S Cambiaghi, A C Crupi, et al.American Journal of Medical Genetics|September 19, 1997
Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selectionR Schubert, R Viersbach, T Eggermann, et al.American Journal of Medical Genetics|February 1, 1993
Chorionic villus sampling followed by amniocentesis in the same pregnancyA E Donnenfeld, R J Librizzi, L K Dunn, et al.American Journal of Medical Genetics|January 1, 1980
Brief clinical report: femoral hypoplasia--unusual facies syndromeD Hurst, D F JohnsonAmerican Journal of Medical Genetics|January 1, 1980
The recurrence risk for neural tube defects in the United States: a collaborative studyS Cowchock, E Ainbender, G Prescott, et al.American Journal of Medical Genetics|January 1, 1980
Discriminant analysis of ribosomal protein synthesis findings in carrier detection of Duchenne muscular dystrophyV Ionasescu, L Burmeister, J HansonPageof 854