(Q48614734)

13 February 2018

title

Joubert syndrome: more than lower cerebellar vermis hypoplasia, less than a complex brain malformation. (English)

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13 February 2018

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1

Eugen Boltshauser

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13 February 2018

publication date

1 May 2002

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13 February 2018

American Journal of Medical Genetics Part A

published in

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13 February 2018

volume

109

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13 February 2018

issue

4

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13 February 2018

page(s)

332

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13 February 2018

OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10366

Clinical features and revised diagnostic criteria in Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10366

Image of the month: Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10366

Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10366

Follow-up in children with Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10366

Coexistence of Gaucher disease type 1 and Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10366

Neuropathology of Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10366

21 January 2018

Identifiers

DOI

10.1002/AJMG.10366

1 reference

13 February 2018

1 reference

13 February 2018