(Q77764782)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9880216%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

title

Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome (English)

1 reference

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8 December 2019

5

1 reference

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8 December 2019

author name string

L O Atchaneeyasakul

1

1 reference

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8 December 2019

L M Linck

2

1 reference

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8 December 2019

W E Connor

3

1 reference

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8 December 2019

R G Weleber

4

1 reference

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8 December 2019

publication date

1 December 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9880216%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

8 December 2019

published in

1 reference

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8 December 2019

volume

80

1 reference

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8 December 2019

issue

5

1 reference

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8 December 2019

page(s)

501-505

1 reference

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Cholesterol and cataracts

8 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C501%3A%3AAID-AJMG12%3E3.0.CO%3B2-J

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C501%3A%3AAID-AJMG12%3E3.0.CO%3B2-J

Ocular Manifestations of the Smith-Lemli-Opitz Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C501%3A%3AAID-AJMG12%3E3.0.CO%3B2-J

Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C501%3A%3AAID-AJMG12%3E3.0.CO%3B2-J

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C501%3A%3AAID-AJMG12%3E3.0.CO%3B2-J

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C501%3A%3AAID-AJMG12%3E3.0.CO%3B2-J

Optic nerve hypoplasia and astigmatism: a new association

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C501%3A%3AAID-AJMG12%3E3.0.CO%3B2-J

10.1002/(SICI)1096-8628(19981228)80:5<501::AID-AJMG12>3.0.CO;2-J

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9880216%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

1 reference