(Q41009067)

25 September 2017

0 references

Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype (English)

1 reference

diaphragmatic eventration

25 September 2017

1 reference

based on heuristic

inferred from title

congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

1 reference

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27469131%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

Jun Sun

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27469131%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Angela J McGillivray

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27469131%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Jason Pinner

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27469131%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Zhihui Yan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27469131%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Fengxia Liu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27469131%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Drago Bratkovic

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27469131%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Elizabeth Thompson

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27469131%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Xiuxiu Wei

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27469131%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Huifeng Jiang

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27469131%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Asan

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27469131%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

publication date

27 July 2016

1 reference

Journal of Inherited Metabolic Disorders Reports

25 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27469131%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27469131%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

page(s)

1-9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27469131%20AND%20SRC:MED&resulttype=core&format=json

Diaphragmatic eventration in children

11 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=5509547

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509547

Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509547

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509547

International standards for newborn weight, length, and head circumference by gestational age and sex: the Newborn Cross-Sectional Study of the INTERGROWTH-21st Project

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509547

SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509547

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509547

Asparagine synthetase: regulation by cell stress and involvement in tumor biology

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509547

Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509547

The blood-spinal cord barrier: morphology and clinical implications

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509547

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509547

A method and server for predicting damaging missense mutations

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509547

Serine-deficiency syndromes

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509547

Congenital Eventration of the Diaphragm in Children: 25 Years' Experience in Three Pediatric Surgery Centers

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509547

ASPM is a major determinant of cerebral cortical size

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509547

Identification of microcephalin, a protein implicated in determining the size of the human brain

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509547

Mechanistic issues in asparagine synthetase catalysis

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509547

An update on serine deficiency disorders

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509547

Molecular structure of the human asparagine synthetase gene.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5509547

Three-dimensional structure of escherichia coli asparagine synthetase B: A short journey from substrate to product

15 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27469131

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Eventration of the diaphragm

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27469131

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/8904_2016_3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27469131%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27469131%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference