(Q44432234)

2 December 2017

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36 (English)

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5200981

31 December 2023

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5200981

31 December 2023

author name string

Martin McKibbin

3

1 reference

2 December 2017

Yasmin Rashid

4

1 reference

2 December 2017

Hussain Jafri

5

1 reference

2 December 2017

T. Jeffrey Keen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12734549

31 December 2023

Moin D. Mohamed

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12734549

31 December 2023

Irene H. Maumenee

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12734549

31 December 2023

Chris F. Inglehearn

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12734549

31 December 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12734549

31 December 2023

publication date

1 May 2003

1 reference

full work available at URL

2 December 2017

https://www.nature.com/articles/5200981.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12734549

http://www.nature.com/articles/5200981.pdf

31 December 2023

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5200981

http://www.nature.com/articles/5200981

31 December 2023

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5200981

European Journal of Human Genetics

31 December 2023

published in

1 reference

2 December 2017

11

1 reference

2 December 2017

5

1 reference

2 December 2017

420-423

1 reference

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200981

2 December 2017

0 references

cites work

Classification of congenital and early onset retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200981

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200981

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200981

Mutations in RPE65 cause Leber's congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200981

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200981

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200981

Mutations in the CRB1 gene cause Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200981

A novel locus for Leber congenital amaurosis maps to chromosome 6q

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200981

A novel locus for Leber congenital amaurosis on chromosome 14q24.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200981

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200981

Strategies for multilocus linkage analysis in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200981

Processing and transport of retinoids by the retinal pigment epithelium

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200981

A new dominant retinal degeneration (Rd4) associated with a chromosomal inversion in the mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200981

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200981

Biosocial perspective of consanguineous marriages in rural and urban Swat, Pakistan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200981

inferred from DOI database lookup

7 January 2021

based on heuristic

What is the birth defect risk associated with consanguineous marriages?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200981

inferred from DOI database lookup

7 January 2021

based on heuristic

A high-resolution recombination map of the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200981

inferred from DOI database lookup

7 January 2021

based on heuristic

Investigative Ophthalmology Visual Science

17

40

3

MW Seeliger

1999

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5200981

Investigative Ophthalmology Visual Science

31 December 2023

18

41

S203

M Danciger

2000

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5200981

31 December 2023

Identifiers

1 reference

Dimensions Publication ID

2 December 2017

0 references

1 reference