(Q58950278)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22356564%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

title

Congenital malformations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22356564%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22356564%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

author name string

Giovanni Corsello

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22356564%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

publication date

14 March 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22356564%20AND%20SRC:MED&resulttype=core&format=json

Journal of Maternal-Fetal and Neonatal Medicine

23 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22356564%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

volume

25 Suppl 1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22356564%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

issue

sup1

0 references

page(s)

25-29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22356564%20AND%20SRC:MED&resulttype=core&format=json

A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population

23 January 2020

cites work

1 reference

https://api.crossref.org/works/10.3109%2F14767058.2012.664943

Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14767058.2012.664943

Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14767058.2012.664943

Clinical and molecular characterization of 40 patients with Noonan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14767058.2012.664943

The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14767058.2012.664943

The genetic aetiology of Silver-Russell syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14767058.2012.664943

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14767058.2012.664943

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14767058.2012.664943

Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14767058.2012.664943

The phenotype of survivors of campomelic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14767058.2012.664943

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14767058.2012.664943