Cornelia Haas-Daumer
Munich, BY, Germany
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 9 publications
Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.
Journal: Human mutation
Published: April 21, 2026
Terminal 4q duplication and extended 10q deletion in a preterm infant with linear growth restriction: transcriptomic evidence of disrupted developmental and metabolic pathways.
Journal: Frontiers in pediatrics
Published: April 08, 2026
Author Correction: Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation.
Journal: Communications biology
Published: June 15, 2021
Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation.
Journal: Communications biology
Published: August 25, 2020
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 09, 2020
Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.
Journal: British journal of cancer
Published: October 24, 2014
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
Journal: American journal of human genetics
Published: September 25, 2013
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
Journal: Human genetics
Published: June 20, 2012
Showing 1-9 of 9
Last Updated: 09/26/2026