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Frances Elmslie

OpenAlex ID: A5122255730
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
2024 · Jussi Pekka Tolonen, Ricardo Parolin Schnekenberg, et al. · Newcastle University ePrints (Newcastle Univesity)
The contribution of X-linked coding variation to severe developmental disorders
2021 · Hilary C. Martin, Eugene J. Gardner, et al. · Newcastle University ePrints (Newcastle Univesity)
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (Nature Communications, (2018), 9, 1, (4619), 10.1038/s41467-018-06014-6)
2019 · Lot Snijders Blok, Justine Rousseau, et al. · Newcastle University ePrints (Newcastle Univesity)
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