Concepedia

Simone Schuffenhauer

SS

Statistics

Publications

34

Citations

3.5K

H-Index

25

Active since

1992

Affiliations

Ludwig-Maximilians-Universität München(Current)

University of Zurich

University of British Columbia

Newcastle University

Women's and Children's Hospital

Simone Schuffenhauer is an author at Ludwig-Maximilians-Universität München specializing in medicine, genetics, and molecular genetics.

Top concepts

Publications per year

1992–2016

34

Publications

34

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

A K Ryan, Judith A. Goodship, David I. Wilson et al. · Journal of Medical Genetics · 1997 · 1.2K citations · Full text

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GATA3 haplo-insufficiency causes human HDR syndrome

Hilde Van Esch, Peter Groenen, M. Andrew Nesbit et al. · Nature · 2000 · 645 citations

, , +5

A common region of 10p deleted in DiGeorge and velocardiofacial syndromes

S. C. M. Daw, Catherine Taylor, Matthew Kraman et al. · Nature Genetics · 1996 · 219 citations

, , +8

Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15

Wendy P. Robinson, Susan L. Christian, Brian D. Kuchinka et al. · Clinical Genetics · 2000 · 105 citations

Multiplex-FISH for Pre- and Postnatal Diagnostic Applications

Sabine Uhrig, Simone Schuffenhauer, Christine Fauth et al. · The American Journal of Human Genetics · 1999 · 97 citations · Full text

, , +5

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