(Q46746121)

24 December 2017

title

Gillespie syndrome: two further cases (English)

1 reference

24 December 2017

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Jo M Wilmshurst

4

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author name string

Kristen A Donald

series ordinal

1

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24 December 2017

Rhianne Grotte

series ordinal

2

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24 December 2017

Antony C Crutchley

series ordinal

3

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24 December 2017

publication date

1 April 2006

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24 December 2017

Journal of Child Neurology

published in

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24 December 2017

volume

21

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24 December 2017

issue

4

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24 December 2017

page(s)

337-340

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24 December 2017

ANIRIDIA, CEREBELLAR ATAXIA, AND OLIGOPHRENIA IN SIBLINGS.

cites work

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210040201

Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210040201

Syndrome of partial aniridia, cerebellar ataxia, and mental retardation--Gillespie syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210040201

Gillespie syndrome: a report of two further cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210040201

Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation).

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210040201

Present limitations of molecular biological diagnostics in Gillespie syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210040201

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210040201

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210040201

Research directions: follow-up of the Joubert Syndrome Workshop, October 21, 1998.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210040201

10.1177/08830738060210040201

21 January 2018

Identifiers

DOI

1 reference

24 December 2017

PubMed ID

16900933

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24 December 2017