Alban Ziegler

11PUBLICATIONS
54CO-AUTHORS
Medical mycologyGenetics not elsewhere classifiedMedical genetics (excl. cancer genetics)Medical infection agents (incl. prions)Epigenetics (incl. genome methylation and epigenomics)
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Publications (11)

|Jul 07, 2026
Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia.

|Dec 03, 2024
Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome.

Tom Snelling, Leo O Garnotel, Isabelle Jeru

|Jan 29, 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel

|Jul 18, 2023
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.

Judit Kárteszi, Alban Ziegler, Mariann Tihanyi

|Mar 14, 2022
Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures.

Rebecca Fenster, Alban Ziegler, Catherine Kentros

|Aug 20, 2021
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.

Miriam Nøstvik, Sarah M Kateta, Bitten Schönewolf-Greulich

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Frequent Collaborators

2 joint publications

Philippe M Campeau

1 joint publications

Karin Weiss

1 joint publications

Hayley P Lazar

1 joint publications

Alina Kurolap