(Q34168200)

31 July 2017

1 reference

title

Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis (English)

1 reference

Gabriele Gillessen-Kaesbach

31 July 2017

main subject

Bohring-Opitz syndrome

1 reference

based on heuristic

inferred from title

author

3

object named as

Gabriele Gillessen-Kaesbach

0 references

Ruth Newbury-Ecob

21

object named as

Ruth Newbury-Ecob

1 reference

31 July 2017

4

Judith Goodship

1 reference

31 July 2017

Rob Hastings

1

1 reference

31 July 2017

Jan-Maarten Cobben

2

1 reference

31 July 2017

Hanne Hove

5

1 reference

31 July 2017

Susanne Kjaergaard

6

1 reference

31 July 2017

Helena Kemp

7

1 reference

31 July 2017

Helen Kingston

8

1 reference

31 July 2017

Peter Lunt

9

1 reference

31 July 2017

Sahar Mansour

10

1 reference

31 July 2017

Ruth McGowan

11

1 reference

31 July 2017

Kay Metcalfe

12

1 reference

31 July 2017

Catherine Murdoch-Davis

13

1 reference

31 July 2017

Mary Ray

14

1 reference

31 July 2017

Marlène Rio

15

1 reference

31 July 2017

Sarah Smithson

16

1 reference

31 July 2017

John Tolmie

17

1 reference

31 July 2017

Peter Turnpenny

18

1 reference

31 July 2017

Bregje van Bon

19

1 reference

31 July 2017

Dagmar Wieczorek

20

1 reference

31 July 2017

language of work or name

1 reference

2 February 2011

1 reference

European Journal of Human Genetics

31 July 2017

published in

1 reference

31 July 2017

volume

19

1 reference

31 July 2017

issue

5

1 reference

31 July 2017

page(s)

513-519

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.234

31 July 2017

exact match

0 references

cites work

Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083618

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083618

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083618

"C" trigonocephaly syndrome with diaphragmnatic hernia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083618

Siblings with Bohring-Opitz syndrome

5 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.234

Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.234

Evolution of a patient with Bohring-Opitz syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.234

Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.234

Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.234

The Opitz trigonocephaly syndrome. A case report

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083618

Infantile high myopia in Bohring-Opitz syndrome

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21368916

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.234

1 reference

Dimensions Publication ID

31 July 2017

1032698399

0 references

Fatcat ID

release_7gs6xf43qjcvrp63t4kd3actg4

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/7gs6xf43qjcvrp63t4kd3actg4

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

3083618

1 reference

31 July 2017

1 reference