(Q28278080)

13

object named as

Christopher A Walsh

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author name string

Wafaa Eyaid

2

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Randall V Collura

3

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Laura D Tully

4

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R Sean Hill

5

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Doha Al-Nouri

6

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Ahmed Al-Rumayyan

7

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Meral Topcu

8

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Generoso Gascon

9

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Adria Bodell

10

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Yin Yao Shugart

11

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Maryellen Ruvolo

Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

12

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language of work or name

English

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publication date

September 2004

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published in

Nature Genetics

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volume

36

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issue

9

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page(s)

1008-13

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cites work

1 reference

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation

21 April 2017

1 reference

Homozygosity mapping of a third Joubert syndrome locus to 6q23

21 April 2017

1 reference

Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations

21 April 2017

1 reference

Mechanisms and functions of Eph and ephrin signalling

21 April 2017

1 reference

Neuropathology of Joubert syndrome

21 April 2017

1 reference

7 January 2021

Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome

1 reference

7 January 2021

Malformations of the posterior fossa: current perspectives

1 reference

7 January 2021

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

1 reference

7 January 2021

Joubert syndrome: a clinico-radiological study

1 reference

7 January 2021

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

1 reference

7 January 2021

Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance

1 reference

7 January 2021

Clinical nosologic and genetic aspects of Joubert and related syndromes

1 reference

7 January 2021

Joubert syndrome: a review

1 reference

7 January 2021

Autism and autistic behavior in Joubert syndrome

1 reference

7 January 2021

Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity

1 reference

7 January 2021

Likelihood ratio tests for detecting positive selection and application to primate lysozyme evolution

1 reference

7 January 2021

DNA sequence and comparative analysis of chimpanzee chromosome 22.

1 reference

7 January 2021

Axon guidance: Comm hither, Robo

1 reference

7 January 2021

Clinical features and revised diagnostic criteria in Joubert syndrome

1 reference

7 January 2021

Recognition of the clinical signs and symptoms of Joubert syndrome

1 reference

7 January 2021

Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees

1 reference

7 January 2021