(Q38010977)

26 August 2017

Diagnostic approaches to apparent homozygosity (English)

1 reference

26 August 2017

1 reference

Megan L Landsverk

1

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26 August 2017

Ganka V Douglas

2

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26 August 2017

Sha Tang

3

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26 August 2017

Victor W Zhang

4

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26 August 2017

Guo-Li Wang

5

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26 August 2017

Jing Wang

6

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26 August 2017

Lee-Jun C Wong

7

1 reference

26 August 2017

language of work or name

English

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publication date

17 May 2012

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26 August 2017

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26 August 2017

14

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26 August 2017

10

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26 August 2017

877-882

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https://scigraph.springernature.com/pub.10.1038/gim.2012.58

26 August 2017

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cites work

The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.58

Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.58

Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.58

Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.58

Allele dropout in PCR-based diagnosis of Wilson disease: mechanisms and solutions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.58

Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.58

Utilization of targeted array comparative genomic hybridization, MitoMet, in prenatal diagnosis of metabolic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.58

Extended newborn screening: an update for the general paediatrician.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.58

Estimation of nonpaternity in the Mexican population of Nuevo Leon: a validation study with blood group markers

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.58

Estimating the frequency of nonpaternity in Switzerland.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.58

Allelic drop-out in the LDLR gene affects mutation detection in familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.58

inferred from DOI database lookup

7 January 2021

based on heuristic

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.58

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/GIM.2012.58

1 reference

Dimensions Publication ID

26 August 2017

0 references

1 reference