(Q41938381)

14 October 2017

The Smith-Lemli-Opitz syndrome in a profoundly retarded epileptic boy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5098076

Smith-Lemli-Opitz syndrome

16 April 2023

main subject

1 reference

1 reference

https://api.crossref.org/works/10.1111/J.1365-2788.1971.TB01153.X

16 April 2023

author name string

J. E. Chakanovskis

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5098076

16 April 2023

G. R. Sutherland

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5098076

16 April 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=5098076

16 April 2023

publication date

1 September 1971

1 reference

full work available at URL

14 October 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2788.1971.tb01153.x

1 reference

https://api.crossref.org/works/10.1111/J.1365-2788.1971.TB01153.X

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2788.1971.tb01153.x/fullpdf

16 April 2023

1 reference

https://api.crossref.org/works/10.1111/J.1365-2788.1971.TB01153.X

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-2788.1971.tb01153.x

16 April 2023

1 reference

https://api.crossref.org/works/10.1111/J.1365-2788.1971.TB01153.X

Journal of mental deficiency research

15 December 2023

published in

1 reference

14 October 2017

15

1 reference

14 October 2017

153-162

1 reference

14 October 2017

3

1 reference

A syndrome characterized by mental retardation, short stature, craniofacial dysplasia, and genital anomalies occurring in siblings

14 October 2017

1

1 reference

https://api.crossref.org/works/10.1111/J.1365-2788.1971.TB01153.X

Identification of human chromosomes by DNA-binding fluorescent agents

16 April 2023

2

1 reference

https://api.crossref.org/works/10.1111/J.1365-2788.1971.TB01153.X

The syndrome of retardation with urogenital and skeletal anomalies in siblings

16 April 2023

4

1 reference

https://api.crossref.org/works/10.1111/J.1365-2788.1971.TB01153.X

Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance.

16 April 2023

5

1 reference

https://api.crossref.org/works/10.1111/J.1365-2788.1971.TB01153.X

Smith-Lemli-Opitz syndrome. Radiologic and postmortem findings.

16 April 2023

6

1 reference

https://api.crossref.org/works/10.1111/J.1365-2788.1971.TB01153.X

Cataracts in a girl with features of the Smith-Lemli-Opitz syndrome

16 April 2023

7

1 reference

https://api.crossref.org/works/10.1111/J.1365-2788.1971.TB01153.X

Smith-Lemli-Opitz syndrome in a Negro child

16 April 2023

9

1 reference

https://api.crossref.org/works/10.1111/J.1365-2788.1971.TB01153.X

A FAMILIAL SYNDROME OF FACIAL AND SKELETAL ANOMALIES ASSOCIATED WITH GENITAL ABNORMALITY IN THE MALE AND NORAML GENITALS IN THE FEMALE: ANOTHER CAUSE OF MALE PSEUDOHERMAPHRODITISM.

16 April 2023

15

1 reference

https://api.crossref.org/works/10.1111/J.1365-2788.1971.TB01153.X

Smith-Lemli-Opitz syndrome. Case report

16 April 2023

16

1 reference

https://api.crossref.org/works/10.1111/J.1365-2788.1971.TB01153.X

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

16 April 2023

18

1 reference

https://api.crossref.org/works/10.1111/J.1365-2788.1971.TB01153.X

16 April 2023

Identifiers

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=5098076

16 April 2023

1 reference