Eva Pipiras
Paris, France
Last Updated: 09/26/2026
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Found 29 publications
Genetic testing for oocyte donor candidates: time for an international recommendation?
Journal: Fertility and sterility
Published: June 06, 2025
An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.
Journal: JAMA network open
Published: April 17, 2024
Chromosomal abnormalities in oocyte donor candidates: a French survey of over 8,200 karyotypes.
Journal: Fertility and sterility
Published: February 26, 2024
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
Journal: American journal of medical genetics. Part A
Published: July 28, 2023
Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters.
Journal: Journal of genetics and genomics = Yi chuan xue bao
Published: January 03, 2023
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication.
Journal: Neurology. Genetics
Published: April 01, 2021
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 18, 2019
New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.
Journal: Clinical genetics
Published: November 02, 2019
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome.
Journal: Journal of medical genetics
Published: August 23, 2019
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.
Journal: European journal of medical genetics
Published: July 22, 2019
Last Updated: 09/26/2026