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Results by year

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

Year Number of Results
1985 1
1989 1
1991 1
1992 1
1993 1
1994 1
1998 1
2000 1
2002 3
2005 2
2006 1
2007 2
2008 2
2009 1
2010 4
2011 1
2012 1
2013 2
2014 1
2016 6
2017 4
2018 1
2019 2
2020 7
2021 5
2022 6
2023 3

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PubMed for id: 369356

57 results

Results by year

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Page 1
Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.
Holt R, Goudie D, Verde AD, Gardham A, Ramond F, Putoux A, Sarkar A, Clowes V, Clayton-Smith J, Banka S, Cortazar Galarza L, Thuret G, Ubeda Erviti M, Zurutuza Ibarguren A, Sáez Villaverde R, Tamayo Durán A, Ayuso C, Bax DA, Plaisancie J, Corton M, Chassaing N, Calvas P, Ragge NK. Holt R, et al. Ophthalmic Genet. 2022 Dec;43(6):809-816. doi: 10.1080/13816810.2022.2144905. Ophthalmic Genet. 2022. PMID: 36695497
A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
Zlotina A, Melnik O, Fomicheva Y, Skitchenko R, Sergushichev A, Shagimardanova E, Gusev O, Gazizova G, Loevets T, Vershinina T, Kozyrev I, Gordeev M, Vasichkina E, Pervunina T, Kostareva A. Zlotina A, et al. BMC Med Genomics. 2020 Nov 20;13(1):175. doi: 10.1186/s12920-020-00821-x. BMC Med Genomics. 2020. PMID: 33218365 Free PMC article.
57 results