(Q48450367)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16900932%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

title

Severe form of Cockayne syndrome with varying clinical presentation and no photosensitivity in a family (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16900932%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16900932%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

author name string

Fatma Müjgan Sonmez

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16900932%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Figen Celep

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16900932%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Sibel Aylin Ugur

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16900932%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

publication date

1 April 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16900932%20AND%20SRC:MED&resulttype=core&format=json

Journal of Child Neurology

28 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16900932%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16900932%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16900932%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

page(s)

333-337

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16900932%20AND%20SRC:MED&resulttype=core&format=json

Intracranial calcification in paediatric computed tomography

28 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210041601

A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210041601

Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210041601

Cockayne syndrome and xeroderma pigmentosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210041601

The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210041601

Encephalopathy with calcifications of the basal ganglia in children. A reappraisal of Fahr's syndrome with respect to 14 new cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210041601

Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210041601

Two siblings with microcephaly associated with calcification of cerebral white matter

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210041601

Cockayne syndrome: Review of 140 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210041601

Cockayne syndrome: review of 25 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210041601

Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210041601

Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210041601

Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210041601

Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210041601

Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210041601

ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210041601

10.1177/08830738060210041601

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16900932%20AND%20SRC:MED&resulttype=core&format=json

release_sqyevqgokbasnck45vvej3jp4e

28 December 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/sqyevqgokbasnck45vvej3jp4e

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference