Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms.

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Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms.

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2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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Genetic aetiology of ophthalmo ...... rial disease-related symptoms.

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Genetic aetiology of ophthalmo ...... rial disease-related symptoms.

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Genetic aetiology of ophthalmo ...... rial disease-related symptoms.

@en

Genetic aetiology of ophthalmo ...... rial disease-related symptoms.

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Genetic aetiology of ophthalmo ...... rial disease-related symptoms.

@en

Genetic aetiology of ophthalmo ...... rial disease-related symptoms.

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P1476

Genetic aetiology of ophthalmo ...... rial disease-related symptoms.

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P2093

Anne M Remes

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Anri Hurme

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Aura Falck

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Johanna Uusimaa

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Kari Majamaa

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Marko Kervinen

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Paula Widgren

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Riikka Keski-Filppula

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P2860

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.

Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations

Phylogenetic network for European mtDNA.

mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences

A method and server for predicting damaging missense mutations

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

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

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.

P304

83-91

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P31

scholarly article

P356

10.1111/AOS.12897

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P433

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P478

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Jukka S Moilanen

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2015-10-08T00:00:00Z

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26448634

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