(Q54630944)

English

Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene.

scientific article

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scholarly article

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8803768

Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene. (English)

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8803768

Contiguous gene syndrome

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

heparin cofactor 2 deficiency

1 reference

based on heuristic

inferred from title

author name string

J Jaeken

1

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8803768

N Goemans

2

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8803768

J P Fryns

3

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8803768

I François

4

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8803768

F de Zegher

5

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8803768

publication date

1 January 1996

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8803768

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8803768

19

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8803768

3

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8803768

275-277

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8803768

https://scigraph.springernature.com/pub.10.1007/bf01799254

0 references

Organization of the human immunoglobulin lambda light-chain locus on chromosome 22q11.2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8803768

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8803768

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/8803768

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8803768

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11

1 reference

https://pubmed.ncbi.nlm.nih.gov/8803768

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF01799254

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8803768

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8803768

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