(Q30310943)

16 June 2017

title

Deletion (14) (q24.3q32.1): evidence for a distinct clinical phenotype (English)

1 reference

16 June 2017

Deletion (14) (q24.3q32.1): Evidence for a distinct clinical phenotype (English)

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440207

22 November 2023

1 reference

chromosomal deletion syndrome

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1280909

8 September 2022

author name string

Karnitis SA

1

1 reference

16 June 2017

Burns K

2

1 reference

16 June 2017

Sudduth KW

3

1 reference

16 June 2017

Golden WL

4

1 reference

16 June 2017

Wilson WG

5

1 reference

16 June 2017

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=1280909

8 September 2022

publication date

1 September 1992

1 reference

16 June 2017

15 September 1992

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1280909

full work available at URL

8 September 2022

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.1320440207

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440207

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.1320440207

22 November 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440207

American Journal of Medical Genetics Part A

22 November 2023

published in

1 reference

16 June 2017

volume

44

1 reference

16 June 2017

issue

2

1 reference

16 June 2017

page(s)

153-157

1 reference

Deletion of band 13q21 is compatible with normal phenotype

16 June 2017

cites work

1

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440207

Genes for immunoglobulin heavy chains and for α1-antitrypsin are localized to specific regions of chromosome 14q

22 November 2023

4

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440207

A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): further delineation of chromosome 14 interstitial deletion syndrome

22 November 2023

5

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440207

Comparison of cytologic and genetic distances between long arm subtelomeric markers of human autosome 14 suggests uneven distribution of crossing-over

22 November 2023

7

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440207

Regional location of alpha 1-antichymotrypsin and alpha 1-antitrypsin genes on human chromosome 14

22 November 2023

8

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440207

Deletion 14q(q24.3 to q32.1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi(alpha 1-antitrypsin)

22 November 2023

11

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440207

22 November 2023

Identifiers

1 reference

16 June 2017

1 reference