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

Year Number of Results
2010 2
2011 2
2012 4
2013 2
2015 6
2016 2
2017 6
2018 5
2019 3
2020 7
2021 10
2022 7
2023 7
2024 3

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62 results

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Page 1
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK, Srinivasan VM, Bakhtiari S, Kruer MC, Salih MA, Kuechler A, Muller EA, Blocker K, Kuismin O, Park KL, Kochhar A, Brown K, Ramanathan S, Clark RD, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa GM, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra RA, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim AM, Abdulwahab F, Alkuraya FS, Khouj EM, Alvi JR, Sultan T, Hashemi N, Karimiani EG, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C. Langhammer F, et al. Among authors: charif m. Genet Med. 2023 Aug;25(8):100885. doi: 10.1016/j.gim.2023.100885. Epub 2023 May 8. Genet Med. 2023. PMID: 37165955
Characterization of SSBP1-related optic atrophy and foveopathy.
Meunier I, Bocquet B, Defoort-Dhellemmes S, Smirnov V, Arndt C, Picot MC, Dollfus H, Charif M, Audo I, Huguet H, Zanlonghi X, Lenaers G. Meunier I, et al. Among authors: charif m. Sci Rep. 2021 Sep 21;11(1):18703. doi: 10.1038/s41598-021-98150-1. Sci Rep. 2021. PMID: 34548540 Free PMC article.
ACO2 clinicobiological dataset with extensive phenotype ontology annotation.
Guehlouz K, Foulonneau T, Amati-Bonneau P, Charif M, Colin E, Bris C, Desquiret-Dumas V, Milea D, Gohier P, Procaccio V, Bonneau D, den Dunnen JT, Lenaers G, Reynier P, Ferré M. Guehlouz K, et al. Among authors: charif m. Sci Data. 2021 Aug 5;8(1):205. doi: 10.1038/s41597-021-00984-x. Sci Data. 2021. PMID: 34354088 Free PMC article.
62 results