Characterization of a de novo t(Y;9) (q11.2;q22) by fish techniqueCONTE, R. A; KLEYMAN, S. M; KLEIN, V et al.Annales de génétique (Paris). 1996, Vol 39, Num 1, pp 10-15, issn 0003-3995Article

Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNA^Leu(UUR) geneSHOFFNER, J. M; BIALER, M. G; PAVLAKIS, S. G et al.Neurology. 1995, Vol 45, Num 2, pp 286-292, issn 0028-3878Article

Erythromycin bioactivity is stable in ophthalmic ointment used for prophylaxis of neonatal gonococcal conjunctivitisBIALER, M. G; BARON, E. J; HARPER, R. G et al.Antimicrobial agents and chemotherapy. 1987, Vol 31, Num 6, pp 954-955, issn 0066-4804Article

AT-rich palindromes mediate the constitutional t(11;22) translocationEDELMANN, L; SPITERI, E; KOREN, K et al.American journal of human genetics. 2001, Vol 68, Num 1, pp 1-13, issn 0002-9297Conference Paper

Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal liverbornsPLETCHER, B. A; SANZ, M. M; SCHLESSEL, J. S et al.Prenatal diagnosis. 1994, Vol 14, Num 10, pp 933-940, issn 0197-3851Article

Proteus syndrome versus Bannayan-Zonana syndrome: a problem in differential diagnosisBIALER, M. G; RIEDY, M. J; WILSON, W. G et al.European journal of pediatrics. 1988, Vol 148, Num 2, pp 122-125, issn 0340-6199Article

Mosaic trisomy 16 ascertained through amniocentesis : Evaluation of 11 new casesHSU, W.-T; SHCHEPIN, D. A; HAJIANPOUR, M. J et al.American journal of medical genetics. 1998, Vol 80, Num 5, pp 473-480, issn 0148-7299Article

Tissue differences in fragile X mosaics : Mosaicism in blood cells may differ greatly from skinDOBKIN, C. S; NOLIN, S. L; COHEN, I et al.American journal of medical genetics. 1996, Vol 64, Num 2, pp 296-301, issn 0148-7299Article

Muscle enzymes and isoenzymes in Emery-Dreifuss muscular dystrophyBIALER, M. G; BRUNS, D. E; KELLY, T. E et al.Clinical chemistry (Baltimore, Md.). 1990, Vol 36, Num 3, pp 427-430, issn 0009-9147Article

Female external genitalia and Müllerian duct derivatives in a 46,XY infant with the Smith-Lemli-Optiz syndromeBIALER, M. G; PENCHASZADEH, V. B; KAHN, E et al.American journal of medical genetics. 1987, Vol 28, Num 3, pp 723-731, issn 0148-7299Article