Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease (Q28301461)

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English	Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease	scientific article

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scholarly article

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Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease (English)

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inflammatory bowel diseases

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Daniel Helbling

object named as

Daniel Helbling

4

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Brennan Decker

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David P Dimmock

22

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author name string

Elizabeth A Worthey

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Alan N Mayer

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Grant D Syverson

3

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Benedetta B Bonacci

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Jaime M Serpe

7

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Trivikram Dasu

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Michael R Tschannen

9

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Regan L Veith

10

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Monica J Basehore

11

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Ulrich Broeckel

12

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Aoy Tomita-Mitchell

13

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Marjorie J Arca

14

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James T Casper

15

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David A Margolis

16

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David P Bick

17

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Martin J Hessner

18

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John M Routes

19

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James W Verbsky

20

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Howard J Jacob

21

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language of work or name

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publication date

March 2011

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Genetics in Medicine

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13

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3

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255-62

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Exome sequencing identifies the cause of a mendelian disorder

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3182088158

21 January 2018

Targeted capture and massively parallel sequencing of 12 human exomes

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3182088158

21 January 2018

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3182088158

21 January 2018

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3182088158

21 January 2018

Clinical assessment incorporating a personal genome

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3182088158

21 January 2018

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3182088158

21 January 2018

High-dose cyclophosphamide for autoimmunity and alloimmunity

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3182088158

21 January 2018

Innate immunity in inflammatory bowel disease.

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3182088158

21 January 2018

Phagocyte dysfunction and inflammatory bowel disease

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3182088158

21 January 2018

Ethnic distribution of the glutathione transferase Mu 1-1 (GSTM1) null genotype in 1473 individuals and application to bladder cancer susceptibility

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182088158

21 January 2018

A PCR-based non-radioactive X-chromosome inactivation assay for genetic counseling in X-linked primary immunodeficiencies

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182088158

21 January 2018

IAPs: more than just inhibitors of apoptosis proteins

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182088158

21 January 2018

XIAP mediates NOD signaling via interaction with RIP2

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3182088158

21 January 2018

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182088158

21 January 2018

Inflammatory bowel disease: cause and immunobiology

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3182088158

21 January 2018

XIAP regulates cytosol-specific innate immunity to Listeria infection

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3182088158

21 January 2018

Identifiers

10.1097/GIM.0B013E3182088158

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Consolidated OpenCitations Corpus – April 2017

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release_hry24pixwnayvkomz4oiifzv6y

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https://api.fatcat.wiki/v0/release/hry24pixwnayvkomz4oiifzv6y

24 November 2022

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OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

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Consolidated OpenCitations Corpus – April 2017

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