Concepedia

Leena Pulkkinen

LP

Statistics

Publications

11

Citations

654

H-Index

11

Active since

1995

Affiliations

Thomas Jefferson University(Current)

Jefferson Institute

Jefferson College

Hirosaki University

University of Helsinki

Leena Pulkkinen is an author at Thomas Jefferson University specializing in molecular genetics, genetics, and medical genetics.

Publications per year

1995–2001

11

Publications

11

Assignment of the Tibial Muscular Dystrophy Locus to Chromosome 2q31

Henna Haravuori, Päivi Mäkelä‐Bengs, Bjarne Udd et al. · The American Journal of Human Genetics · 1998 · 90 citations · Full text

, , +9

Maternal Uniparental Disomy of Chromosome 1 with Reduction to Homozygosity of the LAMB3 Locus in a Patient with Herlitz Junctional Epidermolysis Bullosa

Leena Pulkkinen, Florencia Bullrich, Paula Czarnecki et al. · The American Journal of Human Genetics · 1997 · 89 citations · Full text

, , +15

Compound Heterozygosity for a Recurrent 16.5-kb Alu-Mediated Deletion Mutation and Single-Base-Pair Substitutions in the ABCC6 Gene Results in Pseudoxanthoma Elasticum

Franziska Ringpfeil, Aoi Nakano, Jouni Uitto et al. · The American Journal of Human Genetics · 2001 · 83 citations · Full text

, , +7

Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa

Hauke Schumann, Nadja Hammami-Hauasli, Leena Pulkkinen et al. · The American Journal of Human Genetics · 1997 · 81 citations · Full text

, , +10

Papillon–Lefèvre Syndrome: Mutations and Polymorphisms in the Cathepsin C Gene

Aoi Nakano, Hajime Nakano, Sal LaForgia et al. · Journal of Investigative Dermatology · 2001 · 73 citations · Full text

, , +8

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