(Q57251956)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8330450%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8330450%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference

P M Bouloux

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8330450%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

J Kirk

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8330450%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

P Munroe

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8330450%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

V Duke

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8330450%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

A Hilson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8330450%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

D Grant

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8330450%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

N Carter

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8330450%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

D Betts

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8330450%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

publication date

1 April 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8330450%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8330450%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

volume

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8330450%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8330450%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

page(s)

169-173

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8330450%20AND%20SRC:MED&resulttype=core&format=json

Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome

29 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.1993.TB04442.X

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.1993.TB04442.X

Hereditary bimanual synkinesis combined with hypogonadotropic hypogonadism and anosmia in four brothers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.1993.TB04442.X

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.1993.TB04442.X

Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.1993.TB04442.X

An extremely polymorphic locus on the short arm of the human X chromosome with homology to the long arm of the Y chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.1993.TB04442.X

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.1993.TB04442.X

An RFLP detecting single copy X-chromosome fragment, dic56, from Xp22-Xpter [HGM8 assignment no. DXS 143].

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.1993.TB04442.X

An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.1993.TB04442.X

A family with X-linked ichthyosis and hypogonadism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.1993.TB04442.X

Zinc deficiency in women, infants and children

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.1993.TB04442.X

Neurologic findings in men with isolated hypogonadotropic hypogonadism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.1993.TB04442.X

Detection of specific sequences among DNA fragments separated by gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.1993.TB04442.X

Preparation and bivariate analysis of suspensions of human chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.1993.TB04442.X

Improved resolution of flow cytometric measurements of Hoechst- and chromomycin-A3-stained human chromosomes after addition of citrate and sulfite

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.1993.TB04442.X

A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.1993.TB04442.X

Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.1993.TB04442.X

10.1111/J.1399-0004.1993.TB04442.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8330450%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference