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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2009 2
2010 5
2011 2
2012 3
2013 5
2014 7
2015 3
2016 4
2017 3
2018 1
2019 1
2020 2
2021 6
2022 7
2023 2
2024 2

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44 results

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Page 1
Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies.
Benjamin P, Sudhakar S, D'Arco F, Löbel U, Carney O, Roux CJ, Boddaert N, Hemingway C, Eleftheriou D, Mankad K. Benjamin P, et al. Among authors: lobel u. AJNR Am J Neuroradiol. 2022 Jan;43(1):2-10. doi: 10.3174/ajnr.A7362. Epub 2021 Dec 23. AJNR Am J Neuroradiol. 2022. PMID: 34949589 Free PMC article. Review.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K. Sidpra J, et al. Among authors: lobel u. Brain. 2024 Mar 8:awae056. doi: 10.1093/brain/awae056. Online ahead of print. Brain. 2024. PMID: 38456468 Free article.
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
Knöpfel N, Zecchin D, Richardson H, Polubothu S, Barberan-Martin S, Cullup T, Gholam K, Heales S, Krywawych S, López-Balboa P, Muwanga-Nanyonjo N, Ogunbiyi O, Puvirajasinghe C, Solman L, Swarbrick K, Syed SB, Tahir Z, Tisdall MM, Allgrove J, Chesover AD, Aylett SE, Jacques TS, Hannan FM, Löbel U, Semple RK, Thakker RV, Kinsler VA. Knöpfel N, et al. Among authors: lobel u. J Invest Dermatol. 2024 Apr;144(4):820-832.e9. doi: 10.1016/j.jid.2023.09.008. Epub 2023 Oct 4. J Invest Dermatol. 2024. PMID: 37802294 Free PMC article.
SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.
Kamarus Jaman N, Rehsi P, Henderson RH, Löbel U, Mankad K, Grunewald S. Kamarus Jaman N, et al. Among authors: lobel u. Front Genet. 2021 Dec 1;12:737094. doi: 10.3389/fgene.2021.737094. eCollection 2021. Front Genet. 2021. PMID: 34925443 Free PMC article.
44 results