(Q24625735)

22

object named as

Robert W Taylor

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author name string

Penelope E Bonnen

1

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John W Yarham

2

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Arnaud Besse

3

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Ping Wu

4

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Eissa A Faqeih

5

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Ali Mohammad Al-Asmari

6

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Mohammad A M Saleh

7

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Wafaa Eyaid

8

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Alrukban Hadeel

9

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Langping He

10

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Frances Smith

11

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Shu Yau

12

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Eve M Simcox

13

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Satomi Miwa

14

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Taraka Donti

15

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Khaled K Abu-Amero

16

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Lee-Jun Wong

17

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William J Craigen

18

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Kenneth L Scott

20

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Robert McFarland

American Journal of Human Genetics

21

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language of work or name

English

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publication date

5 September 2013

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published in

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volume

93

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issue

3

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page(s)

471-81

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cites work

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Fast and accurate short read alignment with Burrows-Wheeler transform

7 April 2017

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7 April 2017

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MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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SKP1 connects cell cycle regulators to the ubiquitin proteolysis machinery through a novel motif, the F-box

7 April 2017

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Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells

7 April 2017

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7 April 2017

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Computational method to predict mitochondrially imported proteins and their targeting sequences

7 April 2017

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Distribution and intensity of constraint in mammalian genomic sequence

7 April 2017

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Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

7 April 2017

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Monogenic mitochondrial disorders

27 September 2017

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Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

27 September 2017

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Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

27 September 2017

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Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

27 September 2017

1 reference

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Assessing mitochondrial dysfunction in cells.

27 September 2017

1 reference

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A reduction in ATP demand and mitochondrial activity with neural differentiation of human embryonic stem cells.

27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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Biochemical assays of respiratory chain complex activity

27 September 2017

1 reference

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Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease

27 September 2017

1 reference

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The efficiency and plasticity of mitochondrial energy transduction.

27 September 2017

1 reference

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Mitochondrial disorders: prevalence, myths and advances.

27 September 2017

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Mitochondrial DNA deletion in "identical" twin brothers

27 September 2017

1 reference

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Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load

27 September 2017

1 reference

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Mitochondrial DNA mutations in human colonic crypt stem cells

27 September 2017

1 reference

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The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations

27 September 2017

1 reference

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Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769921

Methods of microphotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769921

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy

30 May 2018

1 reference

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New Methods for Detecting Lineage-Specific Selection

28 November 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.AJHG.2013.07.017

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.07.017

1 reference

1 reference

1 reference

PubMed publication ID

23993193

1 reference