Dr. Esen Gümüslü

List of publications:

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Institute of Human Genetics
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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

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Abstract

Journal

A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes (2025) Schweiger M, Reis A, Gümüslü E, Krebsova A, Raab A, Lang C, Horn D, et al. Journal article Investigating consanguineous families from Turkey to identify autosomal recessive neurodevelopmental disorders (2022) Gümüslü E, Guemues E, Oz O, Ozkan M, Karaer K, Ekici AB, Yildiz EP, et al. Conference contribution Further clinical and molecular delineation of Alazami syndrome associated with variants in LARP7 (2020) Gümüslü E, Karaer K, Gumus E, Ekici AB, Kraus C, Reis A Conference contribution