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Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Wortmann SB, Ziętkiewicz S, Guerrero-Castillo S, Feichtinger RG, Wagner M, Russell J, Ellaway C, Mróz D, Wyszkowski H, Weis D, Hannibal I, von Stülpnagel C, Cabrera-Orefice A, Lichter-Konecki U, Gaesser J, Windreich R, Myers KC, Lorsbach R, Dale RC, Gersting S, Prada CE, Christodoulou J, Wolf NI, Venselaar H, Mayr JA, Wevers RA. Wortmann SB, et al. Among authors: russell j. Genet Med. 2021 Sep;23(9):1705-1714. doi: 10.1038/s41436-021-01194-x. Epub 2021 Jun 17. Genet Med. 2021. PMID: 34140661 Free article.
Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Wortmann SB, Ziętkiewicz S, Guerrero-Castillo S, Feichtinger RG, Wagner M, Russell J, Ellaway C, Mróz D, Wyszkowski H, Weis D, Hannibal I, von Stülpnagel C, Cabrera-Orefice A, Lichter-Konecki U, Gaesser J, Windreich R, Myers KC, Lorsbach R, Dale RC, Gersting S, Prada CE, Christodoulou J, Wolf NI, Venselaar H, Mayr JA, Wevers RA. Wortmann SB, et al. Among authors: russell j. Genet Med. 2021 Sep;23(9):1789. doi: 10.1038/s41436-021-01280-0. Genet Med. 2021. PMID: 34302123 Free article. No abstract available.
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.
Sue CM, Balasubramaniam S, Bratkovic D, Bonifant C, Christodoulou J, Coman D, Crawley K, Edema-Hildebrand F, Ellaway C, Ghaoui R, Kava M, Kearns LS, Lee J, Liang C, Mackey DA, Murray S, Needham M, Rius R, Russell J, Smith NJC, Thyagarajan D, Wools C. Sue CM, et al. Among authors: russell j. Intern Med J. 2022 Jan;52(1):110-120. doi: 10.1111/imj.15505. Epub 2021 Nov 19. Intern Med J. 2022. PMID: 34505344 Free PMC article.
Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales.
Adams L, Selvanathan A, Batten KJ, van Doorn N, Thompson S, Mitchell A, Sampaio H, Dalkeith T, Russell J, Ellaway CJ, Farrar M, Broderick C, Bhattacharya K. Adams L, et al. Among authors: russell j. JIMD Rep. 2023 Aug 9;64(5):327-336. doi: 10.1002/jmd2.12389. eCollection 2023 Sep. JIMD Rep. 2023. PMID: 37701325 Free PMC article.
Criteria for identifying and evaluating locations that could potentially host the Cosmic Explorer observatories.
Daniel KJ, Smith JR, Ballmer S, Bristol W, Driggers JC, Effler A, Evans M, Hoover J, Kuns K, Landry M, Lovelace G, Lukinbeal C, Mandic V, Pham K, Read J, Russell JB, Schiettekatte F, Schofield RMS, Scholz CA, Shoemaker DH, Sledge P, Strunk A. Daniel KJ, et al. Among authors: russell jb. Rev Sci Instrum. 2025 Jan 1;96(1):014502. doi: 10.1063/5.0242016. Rev Sci Instrum. 2025. PMID: 39785509
Biomarkers.
Russell JK, Conley AC, Boyd B, Schlossberg R, Stranick A, Rosenberg AJ, Acosta LMY, Rafii M, Shokouhi S, Newhouse PA. Russell JK, et al. Alzheimers Dement. 2024 Dec;20 Suppl 2:e091867. doi: 10.1002/alz.091867. Alzheimers Dement. 2024. PMID: 39785441
Biomarkers.
Russell JK, Conley AC, Boyd B, Schlossberg R, Stranick A, Rosenberg AJ, Acosta LMY, Rafii M, Shokouhi S, Newhouse PA. Russell JK, et al. Alzheimers Dement. 2024 Dec;20 Suppl 2:e091823. doi: 10.1002/alz.091823. Alzheimers Dement. 2024. PMID: 39784090
Developing Topics.
Conley AC, Russell JK, Begnoche JP, Boyd B, Key AP, Rosenberg AJ, Stranick A, Schlossberg R, Martin D, Acosta LMY, Wilson JE, Rafii M, Newhouse PA. Conley AC, et al. Among authors: russell jk. Alzheimers Dement. 2024 Dec;20 Suppl 8:e095622. doi: 10.1002/alz.095622. Alzheimers Dement. 2024. PMID: 39783410
5,204 results