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Neurology|April 1, 2016
Diffuse hypomyelination is not obligate for POLR3-related disordersRoberta La Piana, Ferdy K Cayami, Luan T Tran, et al.
Frontiers in Genetics|July 11, 2022
Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary BladderGlenda M Beaman, Filipa M Lopes, Aybike Hofmann, et al.
Kidney International|July 8, 2020
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney diseaseVinh T Huynh, Marie-Pierre Audrézet, John A Sayer, et al.
Theranostics|June 23, 2021
EGFR-targeted intraoperative fluorescence imaging detects high-grade glioma with panitumumab-IRDye800 in a phase 1 clinical trialQuan Zhou, Nynke S van den Berg, Eben L Rosenthal, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 30, 2025
Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformationIne Hoogwijs, Simone A Mandelstam, George McGillivray, et al.
Genes|August 26, 2023
Aicardi Syndrome Is a Genetically Heterogeneous DisorderThuong T Ha, Rosemary Burgess, Morgan Newman, et al.
International Forum of Allergy & Rhinology|November 13, 2024
Pathologic dural invasion is associated with regional recurrence in olfactory neuroblastoma: A multi-institutional studyAnthony Tang, Suchet Taori, Nicholas Fung, et al.
International Forum of Allergy & Rhinology|July 9, 2026
Early Versus Late Recurrence in Olfactory Neuroblastoma: A Multi-Institutional Analysis of Predictive Risk FactorsAlexandria Harris, Anthony Tang, Nicholas Fung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 17, 2020
Clinical impact of genomic testing in patients with suspected monogenic kidney diseaseKushani Jayasinghe, Zornitza Stark, Peter G Kerr, et al.
Nature Communications|November 24, 2025
Targeted sequencing and iterative assembly of near-complete genomesHasindu Gamaarachchi, Igor Stevanovski, Jillian M Hammond, et al.
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