Histopathology of the Retina from a Three Year-Old Suspected to Have Joubert Syndrome.

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Histopathology of the Retina from a Three Year-Old Suspected to Have Joubert Syndrome.

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

@yue

2015年論文

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2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

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2015年论文

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2015年论文

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Histopathology of the Retina from a Three Year-Old Suspected to Have Joubert Syndrome.

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Histopathology of the Retina from a Three Year-Old Suspected to Have Joubert Syndrome.

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Item

label

Histopathology of the Retina from a Three Year-Old Suspected to Have Joubert Syndrome.

@ast

Histopathology of the Retina from a Three Year-Old Suspected to Have Joubert Syndrome.

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Histopathology of the Retina from a Three Year-Old Suspected to Have Joubert Syndrome.

@ast

Histopathology of the Retina from a Three Year-Old Suspected to Have Joubert Syndrome.

@en

P1476

Histopathology of the Retina from a Three Year-Old Suspected to Have Joubert Syndrome.

@en

P2093

B A Bell

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E I Traboulsi

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J G Hollyfield

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M E Rayborn

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M J Marino

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S A Hagstrom

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V L Bonilha

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P2860

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene

Joubert syndrome and related disorders.

Joubert syndrome: insights into brain development, cilium biology, and complex disease.

Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.

Histopathology and functional correlations in a patient with a mutation in RPE65, the gene for retinol isomerase.

Genotypes and phenotypes of Joubert syndrome and related disorders.

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.

Advances in the genetics of eye diseases.

The primary cilium: guardian of organ development and homeostasis.

P31

scholarly article

P433

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P478

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P577

2015-09-21T00:00:00Z

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P698

27747301

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P932

5061139

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