(Q51981059)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17625506%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

title

Chromosomal microdeletions and genes' functions: a cluster of chromosomal microdeletions and the deleted genes' functions (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17625506%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17625506%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

author name string

Ruti Parvari

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17625506%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

publication date

11 July 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17625506%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

2 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17625506%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17625506%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17625506%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

page(s)

997-998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17625506%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201894

2 January 2020

exact match

0 references

cites work

Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria

1 reference

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A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201894

Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201894

Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201894

The 2p21 deletion syndrome: characterization of the transcription content

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201894

New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201894

The PREPL A protein, a new member of the prolyl oligopeptidase family, lacking catalytic activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201894