(Q52191684)

26 April 2018

title

De novo 16p deletion: ATR-16 syndrome (English)

1 reference

10.1002/(SICI)1096-8628(19971112)72:4<451::AID-AJMG15>3.0.CO;2-Q

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4%3C451::AID-AJMG15%3E3.0.CO;2-Q

25 November 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9375730

chromosomal deletion syndrome

25 November 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9375730

25 November 2024

1

Lindor NM

1 reference

26 April 2018

author name string

N. M. Lindor

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9375730

25 November 2024

M. G. Valdes

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9375730

25 November 2024

M. Wick

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9375730

25 November 2024

S. N. Thibodeau

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9375730

25 November 2024

S. Jalal

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9375730

25 November 2024

publication date

1 November 1997

1 reference

26 April 2018

12 November 1997

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9375730

25 November 2024

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=9375730

full work available at URL

25 November 2024

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F(SICI)1096-8628(19971112)72:4%3C451::AID-AJMG15%3E3.0.CO;2-Q

1 reference

10.1002/(SICI)1096-8628(19971112)72:4<451::AID-AJMG15>3.0.CO;2-Q

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4%3C451::AID-AJMG15%3E3.0.CO;2-Q

https://onlinelibrary.wiley.com/doi/full/10.1002/(SICI)1096-8628(19971112)72:4%3C451::AID-AJMG15%3E3.0.CO;2-Q

25 November 2024

1 reference

10.1002/(SICI)1096-8628(19971112)72:4<451::AID-AJMG15>3.0.CO;2-Q

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4%3C451::AID-AJMG15%3E3.0.CO;2-Q

American Journal of Medical Genetics Part A

25 November 2024

published in

1 reference

26 April 2018

volume

72

1 reference

26 April 2018

issue

4

1 reference

26 April 2018

page(s)

451-454

1 reference

26 April 2018

Hemoglobin-H Disease in Association with Multiple Congenital Abnormalities

cites work

1

1 reference

10.1002/(SICI)1096-8628(19971112)72:4<451::AID-AJMG15>3.0.CO;2-Q

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4%3C451::AID-AJMG15%3E3.0.CO;2-Q

The haemoglobin H disease mental retardation syndrome: molecular studies on the South African case

25 November 2024

2

1 reference

10.1002/(SICI)1096-8628(19971112)72:4<451::AID-AJMG15>3.0.CO;2-Q

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4%3C451::AID-AJMG15%3E3.0.CO;2-Q

Localisation of human alpha globin to 16p13.3----pter

25 November 2024

3

1 reference

10.1002/(SICI)1096-8628(19971112)72:4<451::AID-AJMG15>3.0.CO;2-Q

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4%3C451::AID-AJMG15%3E3.0.CO;2-Q

Cloning and nucleotide sequence analysis of human embryonic zeta-globin cDNA

25 November 2024

4

1 reference

10.1002/(SICI)1096-8628(19971112)72:4<451::AID-AJMG15>3.0.CO;2-Q

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4%3C451::AID-AJMG15%3E3.0.CO;2-Q

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).

25 November 2024

5

1 reference

10.1002/(SICI)1096-8628(19971112)72:4<451::AID-AJMG15>3.0.CO;2-Q

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4%3C451::AID-AJMG15%3E3.0.CO;2-Q

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

25 November 2024

6

1 reference

10.1002/(SICI)1096-8628(19971112)72:4<451::AID-AJMG15>3.0.CO;2-Q

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4%3C451::AID-AJMG15%3E3.0.CO;2-Q

Analysis of the human alpha-globin gene cluster reveals a highly informative genetic locus

25 November 2024

7

1 reference

10.1002/(SICI)1096-8628(19971112)72:4<451::AID-AJMG15>3.0.CO;2-Q

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4%3C451::AID-AJMG15%3E3.0.CO;2-Q

Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease

25 November 2024

10

1 reference

10.1002/(SICI)1096-8628(19971112)72:4<451::AID-AJMG15>3.0.CO;2-Q

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4%3C451::AID-AJMG15%3E3.0.CO;2-Q

Bulletin of the World Health Organization

25 November 2024

11

60

643

1982

1 reference

10.1002/(SICI)1096-8628(19971112)72:4<451::AID-AJMG15>3.0.CO;2-Q

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4%3C451::AID-AJMG15%3E3.0.CO;2-Q

Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?

25 November 2024

12

1 reference

10.1002/(SICI)1096-8628(19971112)72:4<451::AID-AJMG15>3.0.CO;2-Q

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971112)72:4%3C451::AID-AJMG15%3E3.0.CO;2-Q

25 November 2024

Identifiers

10.1002/(SICI)1096-8628(19971112)72:4<451::AID-AJMG15>3.3.CO;2-8

1 reference

26 April 2018

release_aykvlfrdsbh73ejagwrdug53ra

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/aykvlfrdsbh73ejagwrdug53ra

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

26 April 2018