Abnormal retinal development associated with FRMD7 mutations. - Wikidata - awgldk - TriplyDB

Abnormal retinal development associated with FRMD7 mutations.

Abnormal retinal development associated with FRMD7 mutations.

http://www.wikidata.org/entity/Q33847626

about

The clinical evaluation of infantile nystagmus: What to do first and why.Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing.High-Resolution Imaging of the Optic Nerve and Retina in Optic Nerve Hypoplasia.A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus.Enabling research with human embryonic and fetal tissue resources.Congenital Nystagmus Gene FRMD7 Is Necessary for Establishing a Neuronal Circuit Asymmetry for Direction Selectivity Retinal microstructures are altered in patients with idiopathic infantile nystagmus.

P2860

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P2860

Abnormal retinal development associated with FRMD7 mutations.

http://www.wikidata.org/entity/Q33847626

description

2014 nî lūn-bûn

@nan

2014 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի մարտին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

Abnormal retinal development associated with FRMD7 mutations.

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Abnormal retinal development associated with FRMD7 mutations.

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type

label

Abnormal retinal development associated with FRMD7 mutations.

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Abnormal retinal development associated with FRMD7 mutations.

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prefLabel

Abnormal retinal development associated with FRMD7 mutations.

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Abnormal retinal development associated with FRMD7 mutations.

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P1433

Human Molecular Genetics

P1476

Abnormal retinal development associated with FRMD7 mutations

@en

P2093

Anil Kumar

http://www.w3.org/2001/XMLSchema#string

Anthony T Moore

http://www.w3.org/2001/XMLSchema#string

Bart P Leroy

http://www.w3.org/2001/XMLSchema#string

Irene Gottlob

http://www.w3.org/2001/XMLSchema#string

Masasuke Araki

http://www.w3.org/2001/XMLSchema#string

Mervyn G Thomas

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Moira Crosier

http://www.w3.org/2001/XMLSchema#string

Rebecca J McLean

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Shery Thomas

http://www.w3.org/2001/XMLSchema#string

Viral Sheth

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P2860

NIH Image to ImageJ: 25 years of image analysis

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

PAX6 missense mutation in isolated foveal hypoplasia

The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development

Optical coherence tomography

Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatism.

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.

The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus

Development of the retina and optic pathway.

Expression and localization of FRMD7 in human fetal brain, and a role for F-actin.

P304

4086-4093

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scholarly article

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10.1093/HMG/DDU122

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15

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23

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Gail Maconachie

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2014-03-31T00:00:00Z

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261257063

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24688117

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4082370

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