Concepedia

Katharina Schoner

KS

13

Publications

461

Citations

12

H-Index

2007

Active since

Affiliations

Philipps University of Marburg(Current)

Medical University of Vienna

Klinikum Leverkusen

Universitätsklinikum Gießen und Marburg

Innsbruck Medical University

Katharina Schoner is an author at Philipps University of Marburg specializing in medicine, genetics, and pathology.

Top concepts

MedicineGeneticsPathologyMolecular GeneticsDevelopmental BiologyGenomicsEmbryologyClinical GeneticsNeurogeneticsPrenatal Diagnosis

Publications per year

2007–2020

13

Publications

13

Tetrasomy 12p (Pallister-Killian syndrome): difficulties in prenatal diagnosis

J. Kunz, Katharina Schoner, W Stein et al. · Archives of Gynecology and Obstetrics · 2009 · 81 citations

Down Syndrome, Developmental Anomaly, Pediatrics +5

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

Anika Wehrle, Tomasz M. Witkos, Sheila Unger et al. · JCI Insight · 2019 · 77 citations · Full text

Genetics, Molecular Genetics, Cytoskeleton +16

The genomic and clinical landscape of fetal akinesia

Matthias Pergande, Susanne Motameny, Özkan Özdemir et al. · Genetics in Medicine · 2019 · 54 citations · Full text

Developmental Anomaly, Genetic Disorder, Genetics +5

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

Franco Laccone, Katharina Schoner, Birgit Krabichler et al. · European Journal of Human Genetics · 2011 · 41 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +11

Severe Facial Clefts in Acrofacial Dysostosis

Katharina Schoner, J Steinhard, Jens Figiel et al. · Obstetrics and Gynecology · 2008 · 35 citations

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