(Q41733003)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25469533%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

title

Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25469533%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25469533%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Fowzan S Alkuraya

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25469533%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

author name string

Arif O Khan

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25469533%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Hadeel Alsharif

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25469533%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

publication date

3 December 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25469533%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25469533%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

volume

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25469533%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25469533%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

page(s)

58-63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25469533%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.985847

High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.985847

Conservation of notochord gene expression across chordates: insights from the Leprecan gene family

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.985847

A role for prolyl 3-hydroxylase 2 in post-translational modification of fibril-forming collagens

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.985847

Expression of prolyl 3-hydroxylase genes in embryonic and adult mouse tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.985847

Presence of collagen IV in the ciliary zonules of the human eye: an immunohistochemical study by LM and TEM.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.985847

Regulation of eye size by the retinal basement membrane and vitreous body

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.985847

Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.985847

Management of ophthalmic complications of homocystinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.985847

The distinct ophthalmic phenotype of Knobloch syndrome in children.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.985847

The ophthalmic findings in Cohen syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.985847

Anterior segment imaging and treatment of a case with syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.985847

Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.985847

Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.985847

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.985847

LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.985847

10.3109/13816810.2014.985847

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25469533%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference