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Sophie Uyttebroeck

Observed names: S Uyttebroeck, S. Uyttebroeck, Uyttebroeck, Sophie
ORCID: 0000-0002-5971-8987
Observed ORCID: 0000-0002-5971-8987
OpenAlex ID: A5035598187
Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants
2025 · Annelore Van Der Kelen, Sophie Uyttebroeck, et al. · Journal of Assisted Reproduction and Genetics · 5
Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss
2026 · Nicole Bertola, Eléonore Blondiaux, et al. · The American Journal of Human Genetics · 1
Case Report: A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier
2025 · Jelle Vlaeminck, Sophie Uyttebroeck, et al. · Frontiers in Genetics · 1
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Genetic variants associated with ventricular arrhythmias during ajmaline test in Brugada syndrome
2025 · Charles Audiat, Luigi Pannone, et al. · EP Europace
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Transcriptional profiling reveals glucose-dependent regulation of COL13A1 mRNA in Pompe patients: Prospect for a novel disease mechanism
2025 · S. Uyttebroeck, D.V. Ngoc, et al. · Genes & Diseases
P-506 Oocyte/zygote/embryo maturation arrest: a functional and clinical study expanding the phenotype of NOBOX variants
2024 · A Van Der Kelen, S Uyttebroeck, et al. · Human Reproduction
DNAJC21 mutations as a cause of early onset bone marrow failure: report of two cases
2020 · Elizabet Dorothea Damen, Machiel van den Akker, et al. · VUBIR (Vrije Universiteit Brussel)
Works count: 17
Citation count: 7
H-index: 1
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