Mortality in Joubert syndrome.

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Prenatal diagnosis of Joubert syndrome: A case report and literature review.

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P2860

Mortality in Joubert syndrome.

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http://www.wikidata.org/entity/Q52100122

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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

@zh-cn

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@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

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name

Mortality in Joubert syndrome.

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Mortality in Joubert syndrome.

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type

Item

label

Mortality in Joubert syndrome.

@en

Mortality in Joubert syndrome.

@nl

prefLabel

Mortality in Joubert syndrome.

@en

Mortality in Joubert syndrome.

@nl

P1476

Mortality in Joubert syndrome

@en

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Dan Doherty

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

Hannah M Tully

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

Ian A Glass

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

Ian G Phelps

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P2860

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

A general framework for estimating the relative pathogenicity of human genetic variants

Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.

Joubert syndrome: a review.

Human malformations of the midbrain and hindbrain: review and proposed classification scheme.

Follow-up in children with Joubert syndrome.

Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis.

Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

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1237-1242

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scholarly article

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10.1002/AJMG.A.38158

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English

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

P478

173

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Ruxandra Bachmann-Gagescu

Jennifer C Dempsey

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2017-03-28T00:00:00Z

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P698

28371402

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Mortality in Joubert syndrome.

about

P2860

P2860

Mortality in Joubert syndrome.

description

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698