(Q41952260)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7401135%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

title

Tetrasomy 9p: confirmation by enzyme analysis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7401135%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

author name string

S J Moedjono

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7401135%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

B F Crandall

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7401135%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

R S Sparkes

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7401135%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

language of work or name

English

0 references

publication date

1 June 1980

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7401135%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

17 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7401135%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7401135%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7401135%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

page(s)

227-230

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7401135%20AND%20SRC:MED&resulttype=core&format=json

A new case of the trisomy 9P syndrome. Report of a patient with unusual chromosome findings (46,XX/47,XX, + i (9p) and a peculiar congenital heart defect

17 October 2019

cites work

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048553

Partial tetrasomy 9(9pter to 9q2101) due to an extra iso-dicentric chromosome

5 June 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048553

Improved method for measuring galactose-1-phosphate uridyl transferase activity of erythrocytes

5 June 2018

1 reference

12 December 2020

Partial tetrasomy of number 9 chromosome, and mosaicism in a child with multiple malformations (author's transl)

1 reference

12 December 2020

A presumptive tetrasomy for the short arm of chromosome 9

1 reference

12 December 2020

Improved technique for electrophoresis of human galactose-1-P uridyl transferase (EC 2.7.7.12)

1 reference

12 December 2020

Partial tetrasomy 9 in a liveborn infant

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.17.3.227

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7401135%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7401135%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

PubMed publication ID

7401135

1 reference