(Q35209483)

7 August 2017

title

Personalized genomic medicine: lessons from the exome (English)

1 reference

NISC Comparative Sequencing Program

7 August 2017

author

4

object named as

NISC Comparative Sequencing Program

1 reference

7 August 2017

15

James C Mullikin

1 reference

7 August 2017

Benjamin D Solomon

1

1 reference

7 August 2017

Daniel E Pineda-Alvarez

2

1 reference

7 August 2017

Donald W Hadley

3

1 reference

7 August 2017

Jamie K Teer

5

1 reference

7 August 2017

Praveen F Cherukuri

6

1 reference

7 August 2017

Nancy F Hansen

7

1 reference

7 August 2017

Pedro Cruz

8

1 reference

7 August 2017

Alice C Young

9

1 reference

7 August 2017

Robert W Blakesley

10

1 reference

7 August 2017

Brendan Lanpher

11

1 reference

7 August 2017

Stephanie Mayfield Gibson

12

1 reference

7 August 2017

Murat Sincan

13

1 reference

7 August 2017

Settara C Chandrasekharappa

14

1 reference

7 August 2017

publication date

5 July 2011

1 reference

Molecular Genetics and Metabolism

7 August 2017

published in

1 reference

7 August 2017

volume

104

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7 August 2017

issue

1-2

1 reference

7 August 2017

page(s)

189-191

1 reference

Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171610

Exome sequencing: the sweet spot before whole genomes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171610

Oesophageal atresia and tracheo-oesophageal fistula: current management strategies and complications.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171610

A method and server for predicting damaging missense mutations

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171610

Exome sequencing identifies the cause of a mendelian disorder

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171610

Massively parallel sequencing: the next big thing in genetic medicine

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171610

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171610

Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171610

Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171610

Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171610

The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171610

Analysis of component findings in 79 patients diagnosed with VACTERL association.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171610

Medical therapy for pulmonary arterial hypertension: ACCP evidence-based clinical practice guidelines.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171610

Effect of cardiopulmonary bypass on urea cycle intermediates and nitric oxide levels after congenital heart surgery

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171610

Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171610

L-arginine and substance P reverse the pulmonary endothelial dysfunction caused by congenital heart surgery.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3171610

Nitric oxide precursors and congenital heart surgery: A randomized controlled trial of oral citrulline

26 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.06.022

10.1016/J.YMGME.2011.06.022

7 January 2021

Identifiers

DOI

1 reference

7 August 2017

1 reference

7 August 2017

1 reference