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Year Number of Results
2002 2
2004 1
2005 3
2006 2
2008 1
2009 4
2010 1
2011 1
2012 3
2013 5
2014 8
2015 5
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2017 4
2018 9
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2020 3
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73 results

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Page 1
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Yamamoto GL, et al. Among authors: gos m. J Med Genet. 2015 Jun;52(6):413-21. doi: 10.1136/jmedgenet-2015-103018. Epub 2015 Mar 20. J Med Genet. 2015. PMID: 25795793
Newborn screening and gene therapy in SMA: Challenges related to vaccinations.
Kotulska K, Jozwiak S, Jedrzejowska M, Gos M, Ogrodnik M, Wysocki J, Czajka H, Kuchar E. Kotulska K, et al. Among authors: gos m. Front Neurol. 2022 Nov 23;13:890860. doi: 10.3389/fneur.2022.890860. eCollection 2022. Front Neurol. 2022. PMID: 36504644 Free PMC article. Review.
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Leonardi E, Aspromonte MC, Drongitis D, Bettella E, Verrillo L, Polli R, McEntagart M, Licchetta L, Dilena R, D'Arrigo S, Ciaccio C, Esposito S, Leuzzi V, Torella A, Baldo D, Lonardo F, Bonato G, Pellegrin S, Stanzial F, Posmyk R, Kaczorowska E, Carecchio M, Gos M, Rzońca-Niewczas S, Miano MG, Murgia A. Leonardi E, et al. Among authors: gos m. Eur J Hum Genet. 2023 Feb;31(2):202-215. doi: 10.1038/s41431-022-01233-4. Epub 2022 Nov 25. Eur J Hum Genet. 2023. PMID: 36434256 Free PMC article.
Destabilization of mutated human PUS3 protein causes intellectual disability.
Lin TY, Smigiel R, Kuzniewska B, Chmielewska JJ, Kosińska J, Biela M, Biela A, Kościelniak A, Dobosz D, Laczmanska I, Chramiec-Głąbik A, Jeżowski J, Nowak J, Gos M, Rzonca-Niewczas S, Dziembowska M, Ploski R, Glatt S. Lin TY, et al. Among authors: gos m. Hum Mutat. 2022 Dec;43(12):2063-2078. doi: 10.1002/humu.24471. Epub 2022 Oct 2. Hum Mutat. 2022. PMID: 36125428 Free PMC article.
Structural Patterns Enhancing the Antibacterial Activity of Metallacarborane-Based Antibiotics.
Cebula J, Fink K, Goldeman W, Szermer-Olearnik B, Nasulewicz-Goldeman A, Psurski M, Cuprych M, Kędziora A, Dudek B, Bugla-Płoskońska G, Chaszczewska-Markowska M, Gos M, Migdał P, Goszczyński TM. Cebula J, et al. Among authors: gos m. J Med Chem. 2023 Nov 9;66(21):14948-14962. doi: 10.1021/acs.jmedchem.3c01516. Epub 2023 Oct 30. J Med Chem. 2023. PMID: 37903296
73 results