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Results by year

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

Year Number of Results
1976 2
1978 1
1980 1
1981 1
1983 3
1984 4
1985 1
1986 3
1987 5
1988 1
1990 1
1991 3
1992 2
1993 4
1994 4
1995 5
1996 6
1997 6
1999 4
2000 4
2001 4
2002 6
2003 5
2004 2
2005 5
2006 2
2007 8
2008 6
2009 4
2010 8
2011 8
2012 7
2013 7
2014 9
2015 8
2016 5
2017 4
2018 6
2019 8
2020 13
2021 6
2022 5
2023 4
2024 0

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Publication date

PubMed for id: 113153

187 results

Results by year

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Page 1
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis.
Bukvic N, Chetta M, Bagnulo R, Leotta V, Pantaleo A, Palumbo O, Palumbo P, Oro M, Rivieccio M, Laforgia N, De Rinaldis M, Rosati A, Kerkhof J, Sadikovic B, Resta N. Bukvic N, et al. Genes (Basel). 2023 Jan 7;14(1):165. doi: 10.3390/genes14010165. Genes (Basel). 2023. PMID: 36672906 Free PMC article.
Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes.
Breuer K, Riedhammer KM, Müller N, Schaidinger B, Dombrowsky G, Dittrich S, Zeidler S, Bauer UMM, Westphal DS, Meitinger T, Dakal TC, Hitz MP, Breuer J, Reutter H, Hilger AC, Hoefele J. Breuer K, et al. Eur J Hum Genet. 2022 Aug;30(8):946-954. doi: 10.1038/s41431-022-01100-2. Epub 2022 Apr 26. Eur J Hum Genet. 2022. PMID: 35474353 Free PMC article.
Determining oncogenic patterns and cancer predisposition through the transcriptomic profile in Mitchell-Riley syndrome with heterotopic gastric mucosa and duodenal atresia: a case report.
Calcaterra V, Chiricosta L, Mazzon E, Gugnandolo A, Alberti D, Maestri L, Meroni M, Vestri E, Verduci E, Dilillo D, Zuccotti G, Pelizzo G. Calcaterra V, et al. Orphanet J Rare Dis. 2021 Oct 29;16(1):455. doi: 10.1186/s13023-021-02093-9. Orphanet J Rare Dis. 2021. PMID: 34715892 Free PMC article.
187 results