(Q42349723)

27 October 2017

0 references

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia (English)

1 reference

27 October 2017

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28318089%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Filippo Vairo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28318089%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Matthew B Johnson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28318089%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Richard Caswell

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28318089%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Hana Lango Allen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28318089%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Sian Ellard

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28318089%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

author name string

T W Laver

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28318089%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

K Hussain

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28318089%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

publication date

20 March 2017

1 reference

27 October 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28318089%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28318089%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28318089%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

page(s)

320-323

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28318089%20AND%20SRC:MED&resulttype=core&format=json

The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia

1 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5434855

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5434855

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5434855

Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5434855

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5434855

Hyperinsulinism in developmental syndromes

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5434855

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5434855

Expression of calcium channel mRNAs in rat pancreatic islets and downregulation after glucose infusion.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5434855

Three types of neuronal calcium channel with different calcium agonist sensitivity.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5434855

Treatment of hyperinsulinaemic hypoglycaemia with nifedipine

17 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28318089

12 December 2020

inferred from PubMed ID database lookup

Identifiers

1 reference

https://api.fatcat.wiki/v0/release/hyzollt6xbfhhb4tyvhebrbeke

30 July 2022

release_hyzollt6xbfhhb4tyvhebrbeke

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/hyzollt6xbfhhb4tyvhebrbeke

30 July 2022

https://api.fatcat.wiki/v0/release/hyzollt6xbfhhb4tyvhebrbeke

1 reference

30 July 2022

https://api.fatcat.wiki/v0/release/hyzollt6xbfhhb4tyvhebrbeke

1 reference

30 July 2022