(Q36559159)

14 August 2017

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy (English)

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14 August 2017

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18

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14 August 2017

Chris Mühlhausen

7

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Holger Prokisch

object named as

Holger Prokisch

20

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Richard M. Durbin

13

object named as

Richard Durbin

1 reference

14 August 2017

21

Tobias B Haack

1 reference

14 August 2017

5

Arcangela Iuso

1 reference

14 August 2017

19

Thomas Klopstock

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14 August 2017

16

Tim M Strom

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14 August 2017

3

Bader Alhaddad

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14 August 2017

2

Felix Distelmaier

1 reference

14 August 2017

14

Sascha Sauer

1 reference

14 August 2017

4

Maja Hempel

1 reference

14 August 2017

8

Reka Kovacs-Nagy

1 reference

14 August 2017

11

Riccardo Berutti

1 reference

14 August 2017

Laura S Kremer

1

1 reference

14 August 2017

Clemens Küpper

6

1 reference

14 August 2017

Robin Satanovskij

9

1 reference

14 August 2017

Elisabeth Graf

10

1 reference

14 August 2017

Gertrud Eckstein

12

1 reference

14 August 2017

Georg F Hoffmann

15

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14 August 2017

René Santer

17

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14 August 2017

language of work or name

English

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publication date

19 January 2016

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American Journal of Human Genetics

14 August 2017

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14 August 2017

98

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14 August 2017

2

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14 August 2017

358-362

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14 August 2017

Metabolic Myoglobinuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746337

Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746337

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746337

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746337

Regulation of mitochondrial fatty acid β-oxidation in human: what can we learn from inborn fatty acid β-oxidation deficiencies?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746337

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746337

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746337

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746337

Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746337

Functional genomics reveals genes involved in protein secretion and Golgi organization

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746337

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746337

10.1016/J.AJHG.2015.12.009

21 September 2018

Identifiers

DOI

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14 August 2017

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14 August 2017

1 reference