Gudrun A. Rappold
Heidelberg, BW, Germany
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 85 publications
Linking shox/shox2 deficiency with fgfr3 gain-of-function and natriuretic peptides.
Journal: Frontiers in endocrinology
Published: February 04, 2026
CAV1-A Susceptibility Gene for Atrial Fibrillation: The Impact of Coding and Noncoding Variants.
Journal: Journal of the American Heart Association
Published: January 22, 2026
Inhibition of Phosphodiesterase 10A by MP-10 Rescues Behavioral Deficits and Normalizes Microglial Morphology and Synaptic Pruning in A Mouse Model of FOXP1 Syndrome.
Journal: Advanced science (Weinheim, Baden-Wurttemberg, Germany)
Published: January 10, 2025
Celebrating the 100th anniversary of the Japan Endocrine Society and international collaborations.
Journal: Endocrine journal
Published: September 01, 2024
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
Journal: Cell death & disease
Published: July 14, 2023
Identification of novel genes including NAV2 associated with isolated tall stature.
Journal: Frontiers in endocrinology
Published: July 13, 2023
Generation of two homozygous SHOX2 knock-out human induced pluripotent stem cell lines using CRISPR/Cas9.
Journal: Stem cell research
Published: February 23, 2023
Mitochondrial dysfunction and oxidative stress contribute to cognitive and motor impairment in FOXP1 syndrome.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: December 28, 2021
Europe's Roma people are vulnerable to poor practice in genetics.
Journal: Nature
Published: November 18, 2021
Protect minorities in genetic research.
Journal: Science (New York, N.Y.)
Published: September 23, 2021
Identification of ZBTB26 as a Novel Risk Factor for Congenital Hypothyroidism.
Journal: Genes
Published: September 16, 2021
Last Updated: 09/26/2026