selected scholarly activity
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academic article
- De novo 1q32q44 duplication and distal 1q trisomy syndrome. American Journal of Medical Genetics American Journal of Medical Genetics, Part A. 120A:229-233. 2003
- Fluorescencein situ hybridization of uncultured lymphocytes from cystic hygroma fluid: a potential approach for rapid prenatal diagnosis. Prenatal Diagnosis. 22:81-82. 2002
- Wolf-Hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p. American Journal of Medical Genetics American Journal of Medical Genetics, Part A. 93:285-289. 2000
- De novo deletion 12q: Report of a patient with 12q24.31q24.33 deletion. American Journal of Medical Genetics American Journal of Medical Genetics, Part A. 84:116-119. 1999
- Maternal Uniparental Isodisomy of Human Chromosome 14 Associated with a Paternal t(13q14q) and Precocious Puberty. European Journal of Human Genetics. 4:153-159. 1996
- Trisomy 21: association between reduced recombination and nondisjunction.. American Journal of Human Genetics. 49:608-620. 1991
- Nondisjunction of chromosome 21. American Journal of Medical Genetics American Journal of Medical Genetics, Part A. 37:175-181. 1990
- Studying nondisjunction of chromosome 21 with cytogenetic markers on the short arm and DNA markers encompassing the long arm.. Progress in Clinical and Biological Research. 311:101-113. 1989
- Detection and Interpretation of Two Different Cell Lines in Triploid Abortions. Obstetrical and Gynecological Survey. 41:588-589. 1986
- Trisomy 21 Down syndrome. Human Genetics. 72:118-122. 1986
- The fragile X in cattle. American Journal of Medical Genetics American Journal of Medical Genetics, Part A. 23:557-562. 1986
- Detection and interpretation of two different cell lines in triploid abortions. Clinical Genetics. 28:489-494. 1985
- Trisomy 21 Down syndrome. Human Genetics. 70:246-248. 1985
- Triploidy and chromosomes. American Journal of Obstetrics and Gynecology. 151:65-69. 1985
- Additional evidence for fragile X activity in heterozygous carriers. American Journal of Human Genetics. 35:861-868. 1983
- Twinning rate in spontaneous abortions. American Journal of Human Genetics. 35:987-993. 1983
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conference paper
- Direct duplication of 4p14p15.31.. American Journal of Human Genetics. A363-A363. 1999
- Duplication 1q32-q44 and multiple congenital anomalies.. American Journal of Human Genetics. A157-A157. 1999