Louise Goujon
Paris, France
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Journal: Molecular genetics & genomic medicine
Published: August 03, 2023
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.
Journal: Molecular genetics and metabolism
Published: July 27, 2023
Expanding the phenotype of GTF2E2-associated trichothiodystrophy.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: May 29, 2023
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Journal: Hepatology (Baltimore, Md.)
Published: March 17, 2023
Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient.
Journal: The CRISPR journal
Published: January 11, 2023
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 14, 2021
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 02, 2020
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
Journal: Journal of inherited metabolic disease
Published: September 09, 2019
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Journal: Brain : a journal of neurology
Published: June 12, 2018
Showing 1-10 of 10
Last Updated: 09/26/2026