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Human Mutation|February 13, 2004
A novel PTPN11 mutation in LEOPARD syndromeE Conti, T Dottorini, A Sarkozy, et al.
American Journal of Medical Genetics|November 7, 1998
Noonan syndrome and aortic coarctationM C Digilio, B Marino, F Picchio, et al.
International Journal of Clinical & Laboratory Research|January 1, 1994
A new method for direct analysis of polymerase chain reaction-amplified human papillomavirus using DNA enzyme immunoassayF Sangiuolo, L De Santis, A Cavicchini, et al.
Acta Geneticae Medicae Et Gemellologiae|January 1, 1978
Delineation of syndromes due to partial 6q imbalances. Trisomy 6q21 leads to qter and monosomy 6q221 leads to qter in two unrelated patientsB Dallapiccola, F D Bricarelli, A R Quartino, et al.
Annales De Genetique|January 1, 1992
Partial deletion 10p syndrome. Report of two patientsM G Obregon, R Mingarelli, A Giannotti, et al.
Biochemistry and Molecular Biology International|February 1, 1993
Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscleG Novelli, M Gennarelli, G Zelano, et al.
Scandinavian Journal of Haematology|February 1, 1982
Chromosomal, morphological and clinical correlations in blastic crisis of chronic myeloid leukaemia: a study of 69 casesG Alimena, B Dallapiccola, R Gastaldi, et al.
American Journal of Human Genetics|July 27, 1999
Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22M Mangino, O Sanchez, I Torrente, et al.
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