Ulrich Zechner
Mainz, RP, Germany
Last Updated: 09/26/2026
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Found 56 publications
FRMPD4, a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing loss.
Journal: medRxiv : the preprint server for health sciences
Published: April 10, 2026
Correction: Impact of the Reflux Origin on the Clinical Stage and Surgical Decision in Primary Varicose Veins
Journal: Zentralblatt fur Chirurgie
Published: April 08, 2024
Impact of the Reflux Origin on the Clinical Stage and Surgical Decision in Primary Varicose Veins
Journal: Zentralblatt fur Chirurgie
Published: March 20, 2024
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
Journal: The Journal of clinical investigation
Published: April 18, 2022
A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome.
Journal: Cold Spring Harbor molecular case studies
Published: March 26, 2022
OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype.
Journal: Journal of human genetics
Published: March 31, 2021
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Journal: Human molecular genetics
Published: February 26, 2021
CpG islands in MyD88 and ASC/PYCARD/TMS1 promoter regions are differentially methylated in head and neck squamous cell carcinoma and primary lung squamous cell carcinoma.
Journal: Diagnostic pathology
Published: November 19, 2020
Lipid presentation by the protein C receptor links coagulation with autoimmunity.
Journal: Science (New York, N.Y.)
Published: April 06, 2020
Promoter methylation status of ASC/TMS1/PYCARD is associated with decreased overall survival and TNM status in patients with early stage non-small cell lung cancer (NSCLC).
Journal: Translational lung cancer research
Published: February 04, 2020
Last Updated: 09/26/2026