Joubert-Boltshauser syndrome with polydactyly in siblings (Q33756016)

29 July 2017

0 references

Joubert-Boltshauser syndrome with polydactyly in siblings (English)

1 reference

29 July 2017

1 reference

1 reference

4

Baraitser M

1 reference

29 July 2017

Egger J

1

1 reference

29 July 2017

Bellman MH

series ordinal

2

1 reference

29 July 2017

Ross EM

series ordinal

3

1 reference

29 July 2017

language of work or name

English

0 references

publication date

1 August 1982

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

29 July 2017

published in

1 reference

29 July 2017

volume

45

1 reference

29 July 2017

issue

8

1 reference

29 July 2017

page(s)

737-739

1 reference

The Joubert syndrome associated with bilateral chorioretinal coloboma.

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1083168

Joubert syndrome: a case confirmed by computerized tomography

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1083168

Dandy-Walker syndrome: analysis of 21 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1083168

Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1083168

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1083168

Polycystic kidneys associated with malformations of the brain, polydactyly, and other birth defects in newborn sibs. A lethal syndrome showing the autosomal-recessive pattern of inheritance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1083168

The Dandy-Walker syndrome. A clinicopathological study based on 28 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1083168

Vermian agenesis and unsegmented midbrain tectum. Case report

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1083168

Uncommon syndromes of cerebellar vermis aplasia. II: Tecto-cerebellar dysraphia with occipital encephalocele

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1083168

Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1083168

Joubert Syndrome: Episodic Hyperpnea, Abnormal Eye Movements, Retardation and Ataxia, Associated with Dysplasia of the Cerebellar Vermis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1083168

Connections between respiratory regulation and paradoxical sleep in a patient with Joubert's syndrome (author's transl)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1083168

Syndrome characterized by lingual malformation, Polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1083168

[Joubert syndrome. Clinical contribution]

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7131000

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Joubert syndrome: clinical and polygraphic observations in a further case

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7131000

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JNNP.45.8.737

1 reference

29 July 2017

1 reference

29 July 2017

1 reference