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1.
CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
Hum Mutat
; 42(4): 323-341, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33538369
2.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Hum Mutat
; 40(6): 765-787, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30825406
3.
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.
Clin Genet
; 95(2): 329-333, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30267408
4.
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.
Int J Mol Sci
; 20(19)2019 Sep 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-31574917
5.
MERTK mutation update in inherited retinal diseases.
Hum Mutat
; 39(7): 887-913, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29659094
6.
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.
Int J Mol Sci
; 19(8)2018 Jul 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-30060493
7.
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.
Am J Hum Genet
; 94(4): 625-33, 2014 Apr 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-24680887
8.
Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.
Mol Vis
; 23: 131-139, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28356705
9.
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.
PLoS One
; 11(12): e0168271, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27977773
10.
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
Orphanet J Rare Dis
; 10: 85, 2015 Jun 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-26103963
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