Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in in a patient with early onset retinal dystrophy

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Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in in a patient with early onset retinal dystrophy

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http://www.wikidata.org/entity/Q57175171

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im Januar 2018 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована у 2018

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Maternal uniparental isodisomy ...... early onset retinal dystrophy

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Maternal uniparental isodisomy ...... early onset retinal dystrophy

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Maternal uniparental isodisomy ...... early onset retinal dystrophy

@en

Maternal uniparental isodisomy ...... early onset retinal dystrophy

@nl

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Maternal uniparental isodisomy ...... early onset retinal dystrophy

@en

Maternal uniparental isodisomy ...... early onset retinal dystrophy

@nl

P1476

Maternal uniparental isodisomy ...... early onset retinal dystrophy

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P2093

Christopher P Barnett

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Emmanuelle Souzeau

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Jamie E Craig

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Jennifer A Thompson

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John N De Roach

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Terri L McLaren

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Tina M Lamey

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P2860

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Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively

Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy

Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

A role for the Tubby-like protein 1 in rhodopsin transport

Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank.

Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.

TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.

P304

478-484

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P31

scholarly article

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English

P478

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P577

2018-01-01T00:00:00Z

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P698

30090012

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P932

6066270

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