Ocular manifestations in the X-linked intellectual disability syndromes.

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Ocular manifestations in the X-linked intellectual disability syndromes.

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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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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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2017年學術文章

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2017年學術文章

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Ocular manifestations in the X-linked intellectual disability syndromes.

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Ocular manifestations in the X-linked intellectual disability syndromes.

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Ocular manifestations in the X-linked intellectual disability syndromes.

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Ocular manifestations in the X-linked intellectual disability syndromes.

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Ocular manifestations in the X-linked intellectual disability syndromes.

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Ocular manifestations in the X-linked intellectual disability syndromes.

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P1476

Ocular manifestations in the X-linked intellectual disability syndromes.

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P2093

Arthur S Aylsworth

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Maheer M Masood

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Roger E Stevenson

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P2860

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome

The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior

Fragile X and X-linked intellectual disability: four decades of discovery

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Renpenning syndrome comes into focus

P304

401-412

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scholarly article

P356

10.1080/13816810.2016.1247459

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P433

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

P478

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P50

Natario Couser

P577

2017-01-23T00:00:00Z

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P698

28112979

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