Mathilde Pujalte
Lyon, France
Last Updated: 09/26/2026
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Found 8 publications
Further characterization of the BRSK2-associated neurodevelopmental disorder.
Journal: European journal of human genetics : EJHG
Published: January 13, 2026
KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.
Journal: Human molecular genetics
Published: April 08, 2025
De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.
Journal: American journal of medical genetics. Part A
Published: January 14, 2025
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.
Journal: Clinical genetics
Published: December 03, 2023
3q29 duplications: A cohort of 46 patients and a literature review.
Journal: American journal of medical genetics. Part A
Published: September 20, 2023
Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families.
Journal: European journal of medical genetics
Published: July 25, 2023
A ZP1 gene mutation in a patient with empty follicle syndrome: A case report and literature review.
Journal: European journal of obstetrics, gynecology, and reproductive biology
Published: September 16, 2022
Showing 1-8 of 8
Last Updated: 09/26/2026