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Results by year

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

Year Number of Results
1975 1
1977 1
1978 2
1979 2
1980 2
1981 1
1984 2
1986 1
1987 1
1988 1
1989 3
1991 1
1992 2
1993 4
1994 1
1995 2
1996 3
1997 5
1998 2
1999 2
2000 1
2001 2
2002 5
2003 2
2004 4
2005 8
2006 3
2007 8
2008 10
2009 12
2010 10
2011 8
2012 6
2013 13
2014 9
2015 9
2016 6
2017 4
2018 8
2019 7
2020 17
2021 10
2022 13
2023 12
2024 4

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Article type

Publication date

PubMed for id: 371332

209 results

Results by year

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Page 1
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Pascual P, Tenorio-Castano J, Mignot C, Afenjar A, Arias P, Gallego-Zazo N, Parra A, Miranda L, Cazalla M, Silván C, Heron D, Keren B, Popa I, Palomares M, Rikeros E, Ramos FJ, Almoguera B, Ayuso C, Swafiri ST, Barbero AIS, Srinivasan VM, Gowda VK, Morleo M, Nigro V, D'Arrigo S, Ciaccio C, Martin Mesa C, Paumard B, Guillen G, Anton ATS, Jimenez MD, Seidel V, Suárez J, Cormier-Daire V, Consortium TS, Nevado J, Lapunzina P. Pascual P, et al. Genes (Basel). 2023 Aug 23;14(9):1664. doi: 10.3390/genes14091664. Genes (Basel). 2023. PMID: 37761804 Free PMC article. Review.
Clinical characterization of familial 1p36.3 microduplication.
Jiao J, Wang Y, Hou Y, Gao C, Shi H, Tian S. Jiao J, et al. Neurogenetics. 2023 Jul;24(3):201-208. doi: 10.1007/s10048-023-00722-y. Epub 2023 Jun 8. Neurogenetics. 2023. PMID: 37289317 Free PMC article. Retracted.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Cali E, Suri M, Scala M, Ferla MP, Alavi S, Faqeih EA, Bijlsma EK, Wigby KM, Baralle D, Mehrjardi MYV, Schwab J, Platzer K, Steindl K, Hashem M, Jones M, Niyazov DM, Jacober J, Littlejohn RO, Weis D, Zadeh N, Rodan L, Goldenberg A, Lecoquierre F, Dutra-Clarke M, Horvath G, Young D, Orenstein N, Bawazeer S, Vulto-van Silfhout AT, Herenger Y, Dehghani M, Seyedhassani SM, Bahreini A, Nasab ME, Ercan-Sencicek AG, Firoozfar Z, Movahedinia M, Efthymiou S, Striano P, Karimiani EG, Salpietro V, Taylor JC, Redman M, Stegmann APA, Laner A, Abdel-Salam G, Li M, Bengala M, Müller AJ, Digilio MC, Rauch A, Gunel M, Titheradge H, Schweitzer DN, Kraus A, Valenzuela I, McLean SD, Phornphutkul C, Salih M, Begtrup A, Schnur RE, Torti E, Haack TB, Prada CE, Alkuraya FS, Houlden H, Maroofian R. Cali E, et al. Genet Med. 2023 Jan;25(1):135-142. doi: 10.1016/j.gim.2022.09.016. Epub 2022 Nov 18. Genet Med. 2023. PMID: 36399134 Free PMC article.
209 results