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maria solanki
(20 results)?
Fueling the Cycle: CDKs in Carbon and Energy Metabolism.
Front Cell Dev Biol. 2018 Aug 17;6:93. doi: 10.3389/fcell.2018.00093. eCollection 2018.
Front Cell Dev Biol. 2018.
PMID: 30175098
Free PMC article.
Review.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Belga Ottoni Porto F, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Sener EC, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B, Kohl S.
Solaki M, et al.
Hum Mutat. 2022 Jul;43(7):832-858. doi: 10.1002/humu.24371. Epub 2022 Apr 14.
Hum Mutat. 2022.
PMID: 35332618
Review.
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Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia.
Solaki M, Wissinger B, Kohl S, Reuter P.
Solaki M, et al.
Genet Med. 2023 Dec;25(12):100979. doi: 10.1016/j.gim.2023.100979. Epub 2023 Sep 6.
Genet Med. 2023.
PMID: 37689994
Free article.
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Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia.
Kohl S, Baumann B, Dassie F, Mayer AK, Solaki M, Reuter P, Kühlewein L, Wissinger B, Maffei P.
Kohl S, et al. Among authors: solaki m.
Int J Mol Sci. 2021 Jul 22;22(15):7842. doi: 10.3390/ijms22157842.
Int J Mol Sci. 2021.
PMID: 34360608
Free PMC article.
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Neuronal Calcium Sensor GCAP1 Encoded by GUCA1A Exhibits Heterogeneous Functional Properties in Two Cases of Retinitis Pigmentosa.
Abbas S, Marino V, Weisschuh N, Kieninger S, Solaki M, Dell'Orco D, Koch KW.
Abbas S, et al. Among authors: solaki m.
ACS Chem Neurosci. 2020 May 20;11(10):1458-1470. doi: 10.1021/acschemneuro.0c00111. Epub 2020 Apr 29.
ACS Chem Neurosci. 2020.
PMID: 32298085
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