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

Year Number of Results
1961 2
1985 1
1987 1
1988 1
1989 5
1990 3
1991 4
1992 3
1993 7
1994 2
1996 1
1997 2
1998 1
1999 2
2000 2
2001 5
2002 4
2003 8
2004 7
2005 8
2006 7
2007 10
2008 9
2009 11
2010 8
2011 11
2012 8
2013 5
2014 8
2015 9
2016 7
2017 5
2018 8
2019 7
2020 7
2021 10
2022 8
2023 0
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175 results
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Page 1
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. Among authors: giorda r. Hum Mutat. 2022 Jul;43(7):832-858. doi: 10.1002/humu.24371. Epub 2022 Apr 14. Hum Mutat. 2022. PMID: 35332618 Review.
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.
Orsini A, Santangelo A, Bravin F, Bonuccelli A, Peroni D, Battini R, Foiadelli T, Bertini V, Valetto A, Iacomino M, Nigro V, Torella AL, Scala M, Capra V, Vari MS, Fetta A, Di Pisa V, Montanari F, Epifanio R, Bonanni P, Giorda R, Operto F, Pastorino G, Sarigecili E, Sardaroglu E, Okuyaz C, Bozdogan S, Musante L, Faletra F, Zanus C, Ferretti A, Vigevano F, Striano P, Cordelli DM. Orsini A, et al. Among authors: giorda r. Genes (Basel). 2022 Jan 30;13(2):276. doi: 10.3390/genes13020276. Genes (Basel). 2022. PMID: 35205321 Free PMC article.
Hidden pandemic: COVID-19-related stress, SLC6A4 methylation, and infants' temperament at 3 months.
Provenzi L, Mambretti F, Villa M, Grumi S, Citterio A, Bertazzoli E, Biasucci G, Decembrino L, Falcone R, Gardella B, Longo MR, Nacinovich R, Pisoni C, Prefumo F, Orcesi S, Scelsa B, Giorda R, Borgatti R. Provenzi L, et al. Among authors: giorda r. Sci Rep. 2021 Aug 2;11(1):15658. doi: 10.1038/s41598-021-95053-z. Sci Rep. 2021. PMID: 34341434 Free PMC article. Clinical Trial.
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Weisschuh N, Sturm M, Baumann B, Audo I, Ayuso C, Bocquet B, Branham K, Brooks BP, Catalá-Mora J, Giorda R, Heckenlively JR, Hufnagel RB, Jacobson SG, Kellner U, Kitsiou-Tzeli S, Matet A, Martorell Sampol L, Meunier I, Rudolph G, Sharon D, Stingl K, Streubel B, Varsányi B, Wissinger B, Kohl S. Weisschuh N, et al. Among authors: giorda r. Hum Mutat. 2020 Jan;41(1):255-264. doi: 10.1002/humu.23920. Epub 2019 Sep 30. Hum Mutat. 2020. PMID: 31544997 Free PMC article.
175 results