M. Macha

发表

Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.

D. Ledbetter, L. Surh, S. Aradhya, 1996, Journal of medical genetics.

PRENATAL DIAGNOSIS OF UNIPARENTAL DISOMY 15 FOLLOWING TRISOMY 15 MOSAICISM

D. Ledbetter, U. Surti, S. Christian, 1996, Prenatal diagnosis.

A complete set of human telomeric probes and their clinical application

D. Ledbetter, R. Regan, J. Flint, 1996, Nature Genetics.

Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes

D. Ledbetter, S. Christian, J. Crolla, 1996, Human Genetics.

Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele.

D. Ledbetter, D. Chitayat, A. Toi, 2000, American journal of medical genetics.

Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence

D. Ledbetter, D. Pilz, W. Dobyns, 1998, Genetics in Medicine.

Identification of a subtle chromosomal translocation in a family with recurrent miscarriages and a child with multiple congenital anomalies. A case report.

L. Shaffer, R. Dunn, A. Spikes, 1996, The Journal of reproductive medicine.

PRENATAL DIAGNOSIS OF UNIPARENTAL DISOMY 15 FOLLOWING TRISOMY 15 MOSAICISM

D. Ledbetter, U. Surti, S. Christian, 1996, Prenatal diagnosis.

Corrigendum: A complete set of human telomeric probes and their clinical application

D. Ledbetter, R. Regan, J. Flint, 1996, Nature Genetics.