Concepedia

Judith L�ffler

JL

Statistics

Publications

1

Citations

27

H-Index

1

Active since

2000

Affiliations

Universität Innsbruck(Current)

Judith L�ffler is an author at Universität Innsbruck specializing in genetic disorders, inborn errors of metabolism, and congenital anomalies genetics.

Publications per year

2000–2000

1

Publications

1

Homozygosity for the W151X stop mutation in the ?7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: Retrospective molecular diagnosis

Judith L�ffler, Alexander Trojovsky, Bettina Casati et al. · American Journal of Medical Genetics · 2000 · 27 citations

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