(Q74365960)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11503169%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11503169%20AND%20SRC:MED&resulttype=core&format=json

Smith-Lemli-Opitz syndrome

10 November 2019

main subject

1 reference

M J Nowaczyk

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11503169%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

D M Garcia

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11503169%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

B Eng

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11503169%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

J S Waye

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11503169%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

publication date

1 September 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11503169%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

10 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11503169%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

102

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11503169%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11503169%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

page(s)

387-388

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11503169%20AND%20SRC:MED&resulttype=core&format=json

Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism

10 November 2019

cites work

1 reference

Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis

21 January 2018

1 reference

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

Accurate detection of Smith-Lemli-Opitz syndrome carriers by measurement of the rate of reduction of the ergosterol C-7 double bond in cultured skin fibroblasts

21 January 2018

1 reference

Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts

21 January 2018

1 reference

Biochemical variants of Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings.

21 January 2018

1 reference

Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

RSH (so-called Smith-Lemli-Opitz) syndrome

21 January 2018

1 reference

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

21 January 2018

1 reference

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

21 January 2018

1 reference

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJMG.1503

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11503169%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference