Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia
2015 · Nature Communications · 300 citations
https://doi.org/10.1038/ncomms9329
P
Pinar Bayrak‐Toydemir
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Pinar Bayrak‐Toydemir is an academic researcher from University of Utah. The author has contributed to research in topics: Vascular Malformations and Hemangiomas & Vascular Anomalies and Treatments & Tracheal and airway disorders. The author has an h-index of 16, co-authored 29 publications.
ORCID: 0000-0003-3241-6273Papers by this author
worksBi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
2023 · npj Genomic Medicine · 16 citations
https://doi.org/10.1038/s41525-022-00343-8
Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients
2025 · BioData Mining · 1 citations
https://doi.org/10.1186/s13040-024-00418-5
P785: Premature termination codon variants in CHD1 and SF3B2 in a complex pedigree with phenotypic variability
2025 · Genetics in Medicine Open · 0 citations
https://doi.org/10.1016/j.gimo.2025.103154
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