(Q54682256)

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HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.

scientific article published on 23 September 2014

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Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/25251209

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/25251209

neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

1 reference

based on heuristic

inferred from title

Johannes A Mayr

5

1 reference

Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/25251209

13

1 reference

Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/25251209

12

object named as

Arif B Ekici

1 reference

Europe PubMed Central

PubMed publication ID

2 June 2018

author name string

Miriam S Reuter

1

1 reference

Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/25251209

Jörn Oliver Sass

2

1 reference

Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/25251209

Thomas Leis

3

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Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/25251209

Julia Köhler

4

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Europe PubMed Central

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2 June 2018

http://europepmc.org/abstract/MED/25251209

René G Feichtinger

6

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Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/25251209

Manfred Rauh

7

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Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/25251209

Ina Schanze

8

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Europe PubMed Central

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2 June 2018

http://europepmc.org/abstract/MED/25251209

Luzy Bähr

9

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Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/25251209

Regina Trollmann

10

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Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/25251209

Steffen Uebe

11

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Europe PubMed Central

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2 June 2018

http://europepmc.org/abstract/MED/25251209

language of work or name

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publication date

23 September 2014

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Europe PubMed Central

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2 June 2018

http://europepmc.org/abstract/MED/25251209

American Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/25251209

164A

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Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/25251209

12

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Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/25251209

3162-3169

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Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/25251209

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36766

21 January 2018

The Sequence Alignment/Map format and SAMtools

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36766

21 January 2018

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36766

21 January 2018

Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36766

21 January 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36766

21 January 2018

PLINK: a tool set for whole-genome association and population-based linkage analyses

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36766

21 January 2018

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36766

21 January 2018

Identifiers

10.1002/AJMG.A.36766

1 reference

Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/25251209

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/25251209

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