Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa.

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Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking.Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa

P2860

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P2860

Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa.

Item

http://www.wikidata.org/entity/Q44833970

description

2004 nî lūn-bûn

@nan

2004年の論文

@ja

2004年学术文章

@wuu

2004年学术文章

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2004年学术文章

@zh-cn

2004年学术文章

@zh-hans

2004年学术文章

@zh-my

2004年学术文章

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2004年學術文章

@yue

2004年學術文章

@zh-hant

name

Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa.

@en

Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa.

@nl

type

Item

label

Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa.

@en

Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa.

@nl

prefLabel

Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa.

@en

Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa.

@nl

P1476

Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa.

@en

P2093

Giuliano M

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Milan E

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Moro A

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Parmeggiani F

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Sebastiani A

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Steindler P

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P2860

Mutation screening of Pakistani families with congenital eye disorders

Update on the molecular genetics of retinitis pigmentosa

Guidelines for calibration of stimulus and recording parameters used in clinical electrophysiology of vision. Calibration Standard Committee of the International Society for Clinical Electrophysiology of Vision (ISCEV).

Bilateral macular dysplasia ('colobomata') and congenital retinal dystrophy.

Familial bilateral macular colobomata.

The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly.

Simple and complex ABCR: genetic predisposition to retinal disease.

The Lens Opacities Classification System III. The Longitudinal Study of Cataract Study Group.

Nystagmus in infancy.

Bilateral macular coloboma and pigmented paravenous retinochoroidal atrophy

P2888

sj.eye.6700689

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421-428

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scholarly article

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10.1038/SJ.EYE.6700689

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Ciro Costagliola

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2004-04-01T00:00:00Z

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P921

sibling

Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa.

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P2860

P2860

Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P921

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P921