Concepedia

Hui-hua Li

HL

2

Publications

1K

Citations

2

H-Index

2004

Active since

Affiliations

Drexel University(Current)

University of Pennsylvania

Nemours Children’s Clinic

Children's Hospital of Philadelphia

University of Genoa

Hui-hua Li is an author at Drexel University specializing in molecular genetics, genetics, and medicine.

Top concepts

GeneticsMedicineMolecular GeneticsPathologyCell BiologyClinical GeneticsGenome InstabilityDevelopmental Biology

Publications per year

2004–2004

2

Publications

2

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Ian D. Krantz, Jennifer McCallum, Cheryl DeScipio et al. · Nature Genetics · 2004 · 715 citations · Full text

Genome Instability, Developmental Biology, Genetic Disorder +8

NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations

Lynette A. Gillis, Jennifer McCallum, Maninder Kaur et al. · The American Journal of Human Genetics · 2004 · 312 citations · Full text

Genotype-phenotype Correlations, Mendelian Disorder, Genetic Disorder +9

Rows per page

1–2 of 2