Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome.
about
Alström Syndrome: Mutation Spectrum of ALMS1.Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndromeGenetic diseases that predispose to early liver cirrhosis.High-resolution spectral domain optical coherence tomography images of Alström syndrome.Alström syndrome: genetics and clinical overviewSpectral-domain optical coherence tomography findings in Alström syndrome.Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.Topical carbonic anhydrase inhibitors in macular edema associated with Alström syndrome.
P2860
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P2860
Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Full-field electroretinography ...... phenotype of Alström syndrome.
@en
Full-field electroretinography ...... phenotype of Alström syndrome.
@nl
type
label
Full-field electroretinography ...... phenotype of Alström syndrome.
@en
Full-field electroretinography ...... phenotype of Alström syndrome.
@nl
prefLabel
Full-field electroretinography ...... phenotype of Alström syndrome.
@en
Full-field electroretinography ...... phenotype of Alström syndrome.
@nl
P2093
P1433
P1476
Full-field electroretinography ...... phenotype of Alström syndrome.
@en
P2093
Claes Möller
Elizabeth G Hinman
Jan D Marshall
Jürgen K Naggert
Patsy M Nishina
Sten Andréasson
Vesna Ponjavic
P356
10.1001/ARCHOPHTHALMOL.2007.28
P407
P577
2008-01-01T00:00:00Z