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Scholar Results 1 - 3 of 3 citing Jamieson: Chromosomal translocation in a family with ocular anomalies: indications for karyotype.... (0.08 sec) 

Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a …


E Zafer, J Meck, L Gerrad, E Pras, M Frydman, … - Molecular Vision, 2008 - pubmedcentral.nih.gov
This is an open-access article distributed under the terms of the Creative
Commons Attribution License, which permits unrestricted use, distribution, and
reproduction in any medium, provided the original work is properly cited.
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Molecular analysis of FOXC1 in subjects presenting with severe developmental eye …


K Kaur, NK Ragge, J Ragoussis, 2009 - pubmedcentral.nih.gov
Four coding FOXC1 variations (two novel missense variations, one insertion, and
one novel deletion) were identified in the cohort. Two noncoding variations were
also identified in the 3′-UTR. The missense mutations were c.889C_T and c. ...
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Projecto de Colaboração Luso-Brasileiro Identificação e Estudo de Alterações …

- scielo.br [PDF] 
E Senhor, H Bicas, D David, C de Genética … - Arq. Bras. Oftalmol, 2004 - SciELO Brasil
Introdução A incidência de rearranjos cromossómicos equilibrados de novo é
de aproximadamente 1 em 2500 recém-nascidos, dos quais cerca de 6% se encontram
associados a anomalias fenotí- picas. O mapeamento físico ea clonagem dos ...
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