Publications by authors named "C Fauth"

Claim this Profile
V
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Jose A Rodriguez, Annarita Scardamaglia, Christine Fauth

medRxiv· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool.
Katarína Kušíková, Tzung-Chien Hsieh, Mateja Pfeifer, Christine Fauth, Yoshiko Murakami

Front Genet· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.
Charlotte Guillouet, Valeria Agostini, Geneviève Baujat, Dario Cocciadiferro, Tommaso Pippucci, Christine Fauth

Am J Hum Genet· April 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The use of a woman's own eggs in her first IVF treatment at the age of 48 years and 10 months with successful live birth after PGT-A: a case report.
Claudia Gomes, Mariana Nicolielo Barreto, Anaíde Silva Sousa, Dayane Guerino Reis, Priscila Beirigo, Caroline Fauth

JBRA Assist Reprod· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, Cecilia Mancini, Manuela Priolo, Christine Fauth

Eur J Hum Genet· August 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis