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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 14
2019 7
2020 7
2021 18
2022 16
2023 16
2024 5

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128 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.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. Eur J Hum Genet. 2021. PMID: 33972714 Free PMC article. No abstract available.
A multicenter study of genetic testing for Parkinson's disease in the clinical setting.
Kovanda A, Rački V, Bergant G, Georgiev D, Flisar D, Papić E, Brankovic M, Jankovic M, Svetel M, Teran N, Maver A, Kostic VS, Novakovic I, Pirtošek Z, Rakuša M, Vuletić V, Peterlin B. Kovanda A, et al. Among authors: maver a. NPJ Parkinsons Dis. 2022 Nov 4;8(1):149. doi: 10.1038/s41531-022-00408-6. NPJ Parkinsons Dis. 2022. PMID: 36333361 Free PMC article.
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.
A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathy.
Maver A, Zigman T, Rangrez AY, Coric M, Homolak J, Saric D, Skific I, Udovicic M, Zekusic M, Saleem U, Laufer SD, Hansen A, Frey N, Baric I, Peterlin B. Maver A, et al. Cold Spring Harb Mol Case Stud. 2022 Jul 15;8(5):a006221. doi: 10.1101/mcs.a006221. Online ahead of print. Cold Spring Harb Mol Case Stud. 2022. PMID: 35840178 Free PMC article.
128 results