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

Year Number of Results
1962 2
1964 2
1965 1
1967 1
1968 1
1969 4
1970 1
1971 1
1972 1
1974 1
1977 1
1979 1
1985 1
1986 1
1994 1
2002 1
2007 2
2008 1
2009 2
2010 1
2011 2
2012 3
2013 3
2014 2
2015 6
2016 4
2017 9
2018 13
2019 6
2020 7
2021 12
2022 16
2023 13
2024 3

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116 results

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Page 1
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
van der Spek J, den Hoed J, Snijders Blok L, Dingemans AJM, Schijven D, Nellaker C, Venselaar H, Astuti GDN, Barakat TS, Bebin EM, Beck-Wödl S, Beunders G, Brown NJ, Brunet T, Brunner HG, Campeau PM, Čuturilo G, Gilissen C, Haack TB, Hüning I, Husain RA, Kamien B, Lim SC, Lovrecic L, Magg J, Maver A, Miranda V, Monteil DC, Ockeloen CW, Pais LS, Plaiasu V, Raiti L, Richmond C, Rieß A, Schwaibold EMC, Simon MEH, Spranger S, Tan TY, Thompson ML, de Vries BBA, Wilkins EJ, Willemsen MH, Francks C, Vissers LELM, Fisher SE, Kleefstra T. van der Spek J, et al. Among authors: maver a. Genet Med. 2022 Jun;24(6):1283-1296. doi: 10.1016/j.gim.2022.02.014. Epub 2022 Mar 26. Genet Med. 2022. PMID: 35346573 Free article.
The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant.
Pauly MG, Korenke GC, Diaw SH, Grözinger A, Cazurro-Gutiérrez A, Pérez-Dueñas B, González V, Macaya A, Serrano Antón AT, Peterlin B, Božović IB, Maver A, Münchau A, Lohmann K. Pauly MG, et al. Among authors: maver a. Genes (Basel). 2023 Mar 29;14(4):822. doi: 10.3390/genes14040822. Genes (Basel). 2023. PMID: 37107582 Free PMC article. Review.
Oral microbiome and preterm birth.
Vidmar Šimic M, Maver A, Zimani AN, Hočevar K, Peterlin B, Kovanda A, Premru-Sršen T. Vidmar Šimic M, et al. Among authors: maver a. Front Med (Lausanne). 2023 Aug 7;10:1177990. doi: 10.3389/fmed.2023.1177990. eCollection 2023. Front Med (Lausanne). 2023. PMID: 37608830 Free PMC article.
Transcriptomic signatures for human male infertility.
Hodžić A, Maver A, Zorn B, Petrovič D, Kunej T, Peterlin B. Hodžić A, et al. Among authors: maver a. Front Mol Biosci. 2023 Aug 21;10:1226829. doi: 10.3389/fmolb.2023.1226829. eCollection 2023. Front Mol Biosci. 2023. PMID: 37670815 Free PMC article.
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
Mroczek M, Inashkina I, Stavusis J, Zayakin P, Khrunin A, Micule I, Kenina V, Zdanovica A, Zídková J, Fajkusová L, Limborska S, van der Kooi AJ, Brusse E, Leonardis L, Maver A, Pajusalu S, Õunap K, Puusepp S, Dobosz P, Sypniewski M, Burnyte B, Lace B. Mroczek M, et al. Among authors: maver a. Hum Mutat. 2022 Oct;43(10):1347-1353. doi: 10.1002/humu.24421. Epub 2022 Jun 22. Hum Mutat. 2022. PMID: 35731190
A Novel Variant in the LIPA Gene Associated with Distinct Phenotype.
Sarajlija A, Armengol L, Maver A, Kitic I, Prokic D, Cehic M, Djuricic MS, Peterlin B. Sarajlija A, et al. Among authors: maver a. Balkan J Med Genet. 2023 Mar 1;25(1):93-100. doi: 10.2478/bjmg-2022-0010. eCollection 2022 Jun. Balkan J Med Genet. 2023. PMID: 36880034 Free PMC article.
116 results