J. Milunsky

发表

LADD syndrome is caused by FGF10 mutations

J. Milunsky, D. Everman, G. Zhao, 2006, Clinical genetics.

A re‐examination of the chromosome 8p22‐8p23.1 region in Kabuki syndrome

G. Zhao, Z. Wang, Y. Zou, 2008, Clinical genetics.

Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region

A. Milunsky, J. Milunsky, RV Lebo, 2001, Clinical genetics.

Confirmation of the mapping of the Camurati-Englemann locus to 19q13. 2 and refinement to a 3.2-cM region.

S. Blanton, J. Hecht, C. R. Hall, 2000, Genomics.

XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease

M. Ito, J. Milunsky, TA Maher, 2003, Clinical genetics.

Unmasking Kabuki syndrome: chromosome 8p22–8p23.1 duplication revealed by comparative genomic hybridization and BAC‐FISH

J M Milunsky, X L Huang, J. Milunsky, 2003, Clinical genetics.

Delineation of a supernumerary marker chromosome utilizing a multimodal approach of G‐banding, fluorescent in situ hybridization, confirmatory P1 artificial chromosome fluorescent in situ hybridization, and high‐resolution comparative genomic hybridization

H. Wyandt, J. Milunsky, X‐L Huang, 2005, Clinical genetics.

Cerebro–oculo–facial–lymphatic syndrome

J. Milunsky, DM Capin, 2003, Clinical genetics.

An unstable dicentric Robertsonian translocation in a markedly discordant twin

P. Warburton, J. Milunsky, JM Milunsky, 2002, Clinical genetics.