Guillaume L. Van De Zande
Nijmegen, GE, Netherlands
Last Updated: 09/26/2026
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Found 8 publications
Unmasking Complex Chromosomal Rearrangement Impacting CHD2 by Genome Sequencing and Optical Genome Mapping in Developmental and Epileptic Encephalopathy-DEE94.
Journal: Neuropediatrics
Published: May 08, 2026
Clinically Irrelevant Terminal 16q21 Deletion Detected by NIPT Is Attributable to Inherited Fragility at FRA16B.
Journal: American journal of medical genetics. Part A
Published: July 30, 2025
Assessment of folliculogenesis in ovarian tissue from young patients with Turner syndrome using a murine xenograft model.
Journal: Fertility and sterility
Published: December 19, 2022
Why are some patients with 45,X Turner syndrome fertile? A young girl with classical 45,X Turner syndrome and a cryptic mosaicism in the ovary.
Journal: Fertility and sterility
Published: July 16, 2020
Ovarian follicles of young patients with Turner's syndrome contain normal oocytes but monosomic 45,X granulosa cells.
Journal: Human reproduction (Oxford, England)
Published: March 26, 2019
Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome.
Journal: European journal of medical genetics
Published: November 04, 2012
Clinical delineation of a patient with trisomy 12q23q24.
Journal: European journal of medical genetics
Published: August 30, 2012
Showing 1-8 of 8
Last Updated: 09/26/2026