A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

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A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

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A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

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A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

@en

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

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A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

@en

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

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P1476

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss

@en

P2093

H Kokkonen

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J Ignatius

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J Majewski

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J Uusimaa

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K Vuopala

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S Fahiminiya

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P2860

NIH Image to ImageJ: 25 years of image analysis

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency

REAP: A two minute cell fractionation method.

A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases.

Lethal arthrogryposis with anterior horn cell disease.

Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals

A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization.

Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis.

Insights into mRNA export-linked molecular mechanisms of human disease through a Gle1 structure-function analysis.

P304

173-177

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scholarly article

P356

10.1111/CGE.13086

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P433

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P478

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P577

2017-11-24T00:00:00Z

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28657126

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