(Q37295686)

19 August 2017

Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness (English)

1 reference

19 August 2017

1 reference

1 reference

2

T. J. Sullivan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1540564

6 October 2022

author name string

M. P. Clarke

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1540564

6 October 2022

C. Francis

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1540564

6 October 2022

R. Baumal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1540564

6 October 2022

T. Fenton

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1540564

6 October 2022

W. G. Pearce

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1540564

6 October 2022

language of work or name

English

0 references

publication date

1 March 1992

1 reference

PMC publication ID

504199

full work available at URL

19 August 2017

https://europepmc.org/articles/PMC504199

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1540564

https://europepmc.org/articles/PMC504199?pdf=render

6 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1540564

British Journal of Ophthalmology

6 October 2022

published in

1 reference

19 August 2017

76

1 reference

19 August 2017

3

1 reference

19 August 2017

171-172

1 reference

Hereditary renal dysplasia and blindness

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504199

Sector retinitis pigmentosa in juvenile nephronophthisis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504199

Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504199

The renal lesion of the Laurence-Moon-Biedl syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504199

"Nephronophthisis-congenital hepatic fibrosis": an additional hepatorenal disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504199

The Alström syndrome. Report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504199

Asphyxiating Thoracic Dystrophy (Jeune's Disease) with Retinal Aplasia: A Sibship of Two

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504199

Juvenile nephronophthisis

26 June 2018

1 reference

12 December 2020

Congenital amaurosis and nephrophthisis: a new syndrome

1 reference

12 December 2020

Nephronophthisis. A primary tubular basement membrane defect

1 reference

12 December 2020

Hereditary Renal-Retinal Dysplasia

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.76.3.171

1 reference

19 August 2017

1 reference

PMC publication ID

504199

19 August 2017

1 reference

PMC publication ID

504199