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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438.
medRxiv. 2024.
PMID: 38645094
Free PMC article.
Preprint.
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.
Stutterd CA, Vanderver A, Lockhart PJ, Helman G, Pope K, Uebergang E, Love C, Delatycki MB, Thorburn D, Mackay MT, Peters H, Kornberg AJ, Patel C, Rodriguez-Casero V, Waak M, Silberstein J, Sinclair A, Nolan M, Field M, Davis MR, Fahey M, Scheffer IE, Freeman JL, Wolf NI, Taft RJ, van der Knaap MS, Simons C, Leventer RJ.
Stutterd CA, et al. Among authors: uebergang e.
Eur J Med Genet. 2022 Sep;65(9):104551. doi: 10.1016/j.ejmg.2022.104551. Epub 2022 Jul 5.
Eur J Med Genet. 2022.
PMID: 35803560
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Understanding genomic health information: how to meet the needs of the culturally and linguistically diverse community-a mixed methods study.
Uebergang E, Best S, de Silva MG, Finlay K.
Uebergang E, et al.
J Community Genet. 2021 Oct;12(4):549-557. doi: 10.1007/s12687-021-00537-0. Epub 2021 Jun 29.
J Community Genet. 2021.
PMID: 34185265
Free PMC article.
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The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.
Eratne D, Schneider A, Lynch E, Martyn M, Velakoulis D, Fahey M, Kwan P, Leventer R, Rafehi H, Chong B, Stark Z, Lunke S, Phelan DG, O'Keefe M, Siemering K, West K, Sexton A, Jarmolowicz A, Taylor JA, Schultz J, Purvis R, Uebergang E, Chalinor H, Creighton B, Gelfand N, Saks T, Prawer Y, Smagarinsky Y, Pan T, Goranitis I, Ademi Z, Gaff C, Huq A, Walsh M, James PA, Krzesinski EI, Wallis M, Stutterd CA, Bahlo M, Delatycki MB, Berkovic SF.
Eratne D, et al. Among authors: uebergang e.
J Neurol Sci. 2021 Jan 15;420:117260. doi: 10.1016/j.jns.2020.117260. Epub 2020 Dec 3.
J Neurol Sci. 2021.
PMID: 33310205
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