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Results by year

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

Year Number of Results
1993 2
2002 5
2003 9
2004 5
2005 11
2006 7
2007 10
2008 2
2009 9
2010 13
2011 6
2012 8
2013 11
2014 8
2015 11
2016 9
2017 6
2018 11
2019 10
2020 10
2021 6
2022 6
2023 4
2024 5

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Search Results

156 results

Results by year

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Page 1
Baller-Gerold Syndrome.
Van Maldergem L, Piard J, Larizza L, Wang LL. Van Maldergem L, et al. Among authors: larizza l. 2007 Aug 13 [updated 2018 Apr 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2007 Aug 13 [updated 2018 Apr 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301383 Free Books & Documents. Review.
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
Bonati MT, Castronovo C, Sironi A, Zimbalatti D, Bestetti I, Crippa M, Novelli A, Loddo S, Dentici ML, Taylor J, Devillard F, Larizza L, Finelli P. Bonati MT, et al. Among authors: larizza l. Neurogenetics. 2019 Aug;20(3):145-154. doi: 10.1007/s10048-019-00581-6. Epub 2019 Jun 17. Neurogenetics. 2019. PMID: 31209758 Free article.
Poikiloderma with Neutropenia.
Wang L, Clericuzio C, Larizza L, Concolino D. Wang L, et al. Among authors: larizza l. 2017 Oct 26 [updated 2024 Feb 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2017 Oct 26 [updated 2024 Feb 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 29072891 Free Books & Documents. Review.
Rothmund-Thomson syndrome.
Larizza L, Roversi G, Volpi L. Larizza L, et al. Orphanet J Rare Dis. 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. Orphanet J Rare Dis. 2010. PMID: 20113479 Free PMC article. Review.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. Among authors: larizza l. J Med Genet. 2024 Mar 26:jmg-2023-109438. doi: 10.1136/jmg-2023-109438. Online ahead of print. J Med Genet. 2024. PMID: 38471765 Review.
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.
Recalcati MP, Catusi I, Garzo M, Redaelli S, Massimello M, Maitz SB, Gentile M, Ponzi E, Orsini P, Zilio A, Montaldi A, Calò A, Capra AP, Briuglia S, La Rosa MA, Grillo L, Romano C, Bianca S, Malacarne M, Busè M, Piccione M, Larizza L. Recalcati MP, et al. Among authors: larizza l. Genes (Basel). 2022 Apr 27;13(5):780. doi: 10.3390/genes13050780. Genes (Basel). 2022. PMID: 35627165 Free PMC article. Review.
156 results