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1.
Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions.
Genet Med
; 17(4): 262-70, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25474345
2.
High-resolution modeling of transmembrane helical protein structures from distant homologues.
PLoS Comput Biol
; 10(5): e1003636, 2014 May.
Article
in English
| MEDLINE | ID: mdl-24854015
3.
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
Hum Genet
; 133(3): 331-45, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24154662
4.
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
J Med Genet
; 50(10): 674-88, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23847139
5.
Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients.
Invest Ophthalmol Vis Sci
; 56(3): 1937-46, 2015 Feb 24.
Article
in English
| MEDLINE | ID: mdl-25711638
6.
Notch activation as a driver of osteogenic sarcoma.
Cancer Cell
; 26(3): 390-401, 2014 Sep 08.
Article
in English
| MEDLINE | ID: mdl-25203324
7.
Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.
Invest Ophthalmol Vis Sci
; 54(6): 4158-66, 2013 Jun 14.
Article
in English
| MEDLINE | ID: mdl-23661369
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