(Q48628574)

13 February 2018

title

Clinical and molecular analysis in Joubert syndrome (English)

1 reference

13 February 2018

author name string

Pellegrino JE

1

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13 February 2018

Lensch MW

2

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13 February 2018

Muenke M

3

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13 February 2018

Chance PF

4

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13 February 2018

publication date

1 October 1997

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13 February 2018

American Journal of Medical Genetics Part A

published in

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13 February 2018

volume

72

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13 February 2018

issue

1

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13 February 2018

page(s)

59-62

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13 February 2018

Joubert's syndrome associated with congenital ocular fibrosis and histidinemia.

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1 reference

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Joubert-Boltshauser syndrome with polydactyly in siblings

21 January 2018

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Joubert syndrome: early diagnosis by recognition of the behavioral phenotype and confirmation by cranial sonography

21 January 2018

1 reference

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Joubert syndrome associated with unilateral ptosis and Leber congenital amaurosis

21 January 2018

1 reference

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Joubert syndrome associated with Leber amaurosis and multicystic kidneys

21 January 2018

1 reference

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

21 January 2018

1 reference

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Joubert syndrome: a clinico-radiological study

21 January 2018

1 reference

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Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation

21 January 2018

1 reference

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Chorioretinal coloboma and Joubert syndrome: a nonrandom association

21 January 2018

1 reference

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Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders

21 January 2018

1 reference

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The Joubert syndrome associated with bilateral chorioretinal coloboma.

21 January 2018

1 reference

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Cerebro-oculo-hepato-renal syndrome (Arima' syndrome): a distinct clinicopathological entity

21 January 2018

1 reference

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CHARGE and Joubert syndromes: are they a single disorder?

21 January 2018

1 reference

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A syndrome of congenital retinal dystrophy and saccade palsy--a subset of Leber's amaurosis

21 January 2018

1 reference

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Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation

21 January 2018

1 reference

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Many tumors induced by the mouse mammary tumor virus contain a provirus integrated in the same region of the host genome

21 January 2018

1 reference

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21 January 2018

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Joubert syndrome: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971003%2972%3A1%3C59%3A%3AAID-AJMG12%3E3.0.CO%3B2-T

Swaying is a mutant allele of the proto-oncogene Wnt-1

21 January 2018

1 reference

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Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971003%2972%3A1%3C59%3A%3AAID-AJMG12%3E3.0.CO%3B2-T

10.1002/(SICI)1096-8628(19971003)72:1<59::AID-AJMG12>3.0.CO;2-T

21 January 2018

Identifiers

DOI

1 reference

13 February 2018

1 reference

13 February 2018