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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 1
1995 2
1996 2
1998 2
1999 3
2000 1
2001 1
2002 1
2005 1
2006 2
2008 2
2009 1
2010 1
2011 3
2012 4
2013 2
2014 4
2015 3
2018 2
2019 2
2020 5
2023 0

Text availability

Article attribute

Article type

Publication date

PubMed for id: 372134

41 results

Results by year

Filters applied: . Clear all
Page 1
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
Nasser H, Vera L, Elmaleh-Bergès M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Héron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S. Nasser H, et al. J Med Genet. 2020 Jun;57(6):389-399. doi: 10.1136/jmedgenet-2019-106474. Epub 2020 Feb 3. J Med Genet. 2020. PMID: 32015000 Clinical Trial.
New mutations and an updated database for the patched-1 (PTCH1) gene.
Reinders MG, van Hout AF, Cosgun B, Paulussen AD, Leter EM, Steijlen PM, Mosterd K, van Geel M, Gille JJ. Reinders MG, et al. Mol Genet Genomic Med. 2018 May;6(3):409-415. doi: 10.1002/mgg3.380. Epub 2018 Mar 25. Mol Genet Genomic Med. 2018. PMID: 29575684 Free PMC article.
41 results