(Q74006365)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10896306%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10896306%20AND%20SRC:MED&resulttype=core&format=json

Smith-Lemli-Opitz syndrome

8 November 2019

main subject

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10896306%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Petr Šimek

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10896306%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

author name string

L Kozák

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10896306%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

H Francová

2

1 reference

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8 November 2019

E Hrabincová

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10896306%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

V Jüttnerová

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10896306%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

V Bzdúch

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10896306%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

publication date

1 June 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10896306%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

8 November 2019

published in

1 reference

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8 November 2019

volume

23

1 reference

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8 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10896306%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

page(s)

409-412

1 reference

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https://scigraph.springernature.com/pub.10.1023/a:1005616321794

8 November 2019

exact match

0 references

cites work

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

1 reference

12 December 2020

Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular cloning and expression of the human delta7-sterol reductase

1 reference

12 December 2020

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

1 reference

12 December 2020