Old Web
English
Sign In
Acemap
>
authorDetail
>
Uta Matysiak
Uta Matysiak
Medicine
Genetics
Exon
Metaphyseal chondrodysplasia
Pathology
4
Papers
4
Citations
0
KQI
Citation Trend
Filter By
Interval:
1900~2024
1900
2024
Author
Papers (4)
Sort By
Default
Most Recent
Most Early
Most Citation
No data
Journal
Conference
Others
A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome.
2021
Genes
Isabel Schüle
Urs Berger
Uta Matysiak
Gunda Ruzaike
Brigitte Stiller
Martin Pohl
Ute Spiekerkoetter
Ekkehart Lausch
Sarah C. Grünert
Miriam Schmidts
Show All
Source
Cite
Save
Citations (0)
Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment
2021
Sarah C. Grünert
Uta Matysiak
Franka Hodde
Gunda Ruzaike
Ekkehart Lausch
Anke Schumann
Natascha van der Werf-Grohmann
Ute Spiekerkoetter
Miriam Schmidts
Show All
Source
Cite
Save
Citations (0)
Säugling mit beidseitiger Hornhauttrübung und Aniridie
2020
Ophthalmologe
Helena Wagner
Uta Matysiak
Wolf A. Lagrèze
Show All
Source
Cite
Save
Citations (0)
A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1
2019
Molecular Syndromology
Francisco Cammarata-Scalisi
Uta Matysiak
Tanja Velten
Michele Callea
Dianora Araque
Colin E. Willoughby
Angela Galeotti
Andrea Avendaño
Show All
Source
Cite
Save
Citations (4)
1