Concepedia
Statistics
Publications
18
Citations
1.5K
H-Index
17
Active since
1998
Affiliations
Medical University of Graz(Current)
Charité - Universitätsmedizin Berlin
Ludwig-Maximilians-Universität München
Heidelberg University
University of Graz
Sabine Uhrig is an author at Medical University of Graz specializing in genetics, life sciences, and human genetics.
Publications per year
1998–2018
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
Michaela Auer‐Grumbach, Andrea Olschewski, Lea Papić et al. · Nature Genetics · 2009 · 269 citations · Full text
Life Sciences, Molecular Biology, Molecular Genetics +3
PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome
Delphine Trochet, Louise M. O’Brien, David Gozal et al. · The American Journal of Human Genetics · 2005 · 246 citations · Full text
Life Sciences, Genetics, Oncology +7
An optimized, fully automated system for fast and accurate identification of chromosomal rearrangements by multiplex-FISH (M-FISH)
Roland Eils, Sabine Uhrig, Kaan Saracoglu et al. · Cytogenetic and Genome Research · 1998 · 123 citations
Life Sciences, Genetics, Molecular Biology +13
Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome
AL Schulz, Beate Albrecht, I. van der Bürgt et al. · Clinical Genetics · 2007 · 109 citations
Life Sciences, Genetics, Molecular Genetics +14
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
Medicine, Developmental Biology, Pediatrics +9
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