Katrin Hinderhofer

ORCID: 0000-0003-1493-4608 · 2 papers in corpus

article 2024

P-522 Impact of TGFß/BMP/SMAD Pathway on Premature Ovarian Insuffiency (POI)

·doi:10.1093/humrep/deae108.862

Abstract Study question Is TGFß/BMP/SMAD pathway altered in women with POI and can results be detected from peripheral blood samples? Summary answer The TGFß/BMP/SMAD pathway mRNA-expression-alterations are detectable in leukocytes of women…

2017

Identification and prioritisation of causal variants in human genetic disorders from exome or whole genome sequencing data

·doi:10.1101/209882

With genome sequencing entering the clinics as diagnostic tool to study genetic disorders, there is an increasing need for bioinformatics solutions that enable precise causal variant identification in a timely manner. Background Workflows …