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

Year Number of Results
1985 1
2005 1
2006 2
2007 1
2008 1
2009 1
2010 1
2011 1
2012 4
2017 2
2018 2
2019 2
2020 1
2023 1
2024 0

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PubMed for id: 1620071

19 results

Results by year

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Page 1
Clinical spectrum of male patients with OFD1 mutations.
Sakakibara N, Morisada N, Nozu K, Nagatani K, Ohta T, Shimizu J, Wada T, Shima Y, Yamamura T, Minamikawa S, Fujimura J, Horinouchi T, Nagano C, Shono A, Ye MJ, Nozu Y, Nakanishi K, Iijima K. Sakakibara N, et al. J Hum Genet. 2019 Jan;64(1):3-9. doi: 10.1038/s10038-018-0532-x. Epub 2018 Nov 6. J Hum Genet. 2019. PMID: 30401917
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Pérez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Mégarbané A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Rivière JB, Faivre L, Thauvin-Robinet C. Bruel AL, et al. J Med Genet. 2017 Jun;54(6):371-380. doi: 10.1136/jmedgenet-2016-104436. Epub 2017 Mar 13. J Med Genet. 2017. PMID: 28289185 Free PMC article. Review.
[Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)].
Doray B, Badila-Timbolschi D, Schaefer E, Fattori D, Monga B, Dott B, Favre R, Kohler M, Nisand I, Viville B, Kauffmann I, Bruant-Rodier C, Grollemund B, Rinkenbach R, Astruc D, Gasser B, Lindner V, Marcellin L, Flori E, Girard-Lemaire F, Dollfus H. Doray B, et al. Arch Pediatr. 2012 Oct;19(10):1021-9. doi: 10.1016/j.arcped.2012.07.002. Epub 2012 Aug 24. Arch Pediatr. 2012. PMID: 22925539 French.
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ. Webb TR, et al. Hum Mol Genet. 2012 Aug 15;21(16):3647-54. doi: 10.1093/hmg/dds194. Epub 2012 May 22. Hum Mol Genet. 2012. PMID: 22619378 Free PMC article.
19 results