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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2011 | 1 |
2013 | 1 |
2014 | 1 |
2015 | 1 |
2018 | 1 |
2024 | 0 |
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The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome.
Ophthalmic Genet. 2018 Jun;39(3):321-324. doi: 10.1080/13816810.2018.1430245. Epub 2018 Feb 1.
Ophthalmic Genet. 2018.
PMID: 29388841
Three had spontaneous retinal detachment (two bilateral and one unilateral) with complicated post-surgical courses following retinal detachment repair. The three eyes (two children) without retinal detachment had a consistent unique optic nerve head appearance, with thin e …
Three had spontaneous retinal detachment (two bilateral and one unilateral) with complicated post-surgical courses following retinal …
Cochlear implantation in Donnai-Barrow syndrome.
Bruce IA, Broomfield SJ, Henderson L, Green KM, Ramsden RT.
Bruce IA, et al.
Cochlear Implants Int. 2011 Feb;12(1):60-3. doi: 10.1179/146701010X486534.
Cochlear Implants Int. 2011.
PMID: 21756462
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In-depth phenotyping of a Donnai-Barrow patient helps clarify proximal tubule dysfunction.
Dachy A, Paquot F, Debray G, Bovy C, Christensen EI, Collard L, Jouret F.
Dachy A, et al.
Pediatr Nephrol. 2015 Jun;30(6):1027-31. doi: 10.1007/s00467-014-3037-7. Epub 2015 Mar 31.
Pediatr Nephrol. 2015.
PMID: 25822460
Free article.
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Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome.
Schrauwen I, Sommen M, Claes C, Pinner J, Flaherty M, Collins F, Van Camp G.
Schrauwen I, et al.
Clin Genet. 2014 Sep;86(3):282-6. doi: 10.1111/cge.12265. Epub 2013 Sep 23.
Clin Genet. 2014.
PMID: 23992033
No mutation was identified in COL9A1/2, COL11A1/2, or COL2A1 genes. The variant (c.11483A>G; p.Asp3828Gly) is predicted to be damaging and is conserved among vertebrate species. ...
No mutation was identified in COL9A1/2, COL11A1/2, or COL2A1 genes. The variant (c.11483A>G; p.Asp3828Gly) is predicted to be dama …
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