Felix Marbach
Bonn, NW, Germany
Last Updated: 09/26/2026
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Found 15 publications
Interdisciplinary vascular genetics evaluations in routine clinical care: insights from a five-year single-center experience.
Journal: Langenbeck's archives of surgery
Published: April 21, 2026
Case Report: A heterozygous loss-of-function variant of the ERG gene in a family with vascular pathologies.
Journal: Frontiers in cardiovascular medicine
Published: December 23, 2024
Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome.
Journal: Cell reports
Published: January 13, 2024
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Journal: medRxiv : the preprint server for health sciences
Published: July 28, 2023
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.
Journal: Frontiers in cell and developmental biology
Published: August 16, 2022
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome.
Journal: American journal of medical genetics. Part A
Published: March 03, 2022
A retrospective analysis of growth hormone therapy in children with Schaaf-Yang syndrome.
Journal: Clinical genetics
Published: April 12, 2021
A case of PAPASH syndrome in a young man carrying a novel heterozygote missense variant in PSTPIP1.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: February 15, 2021
Response to Briuglia et al.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 03, 2020
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 29, 2020
The adult phenotype of Schaaf-Yang syndrome.
Journal: Orphanet journal of rare diseases
Published: March 05, 2020
Last Updated: 09/26/2026