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1 .
Intermediaries of branched chain amino acid metabolism induce fetal hemoglobin, and repress SOX6 and BCL11A, in definitive erythroid cells
저자
by
Sonja Hess
;
Cynthia J. Tifft
;
Jaimie Higgs
;
Amrita Dutta
;
Jane A. Little
, et al.
소스
Blood cells, moleculesdiseases
. 55(2)
Full Text (ScienceDirect)
Scopus
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7 .
Whole mitochondrial genome amplification and next generation sequencing for the diagnosis of mitochondrial disorders: Yield of 613 cases
저자
by
Gabriele Richard
;
Wendy K. Chung
;
Mark A. Tarnopolsky
;
Jaimie Higgs
;
Dolores Arjona
, et al.
소스
Mitochondrion
. 13:935-936
Web of Science
Scopus
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7 .
Mitochondrial genome sequencing: A valuable addition to whole exome sequencing for the molecular diagnosis of mitochondrial disorders
저자
by
Dolores Arjona
;
Renkui Bai
;
Sumit Parikh
;
Dmitriy Niyazov
;
Mark A. Tarnopolsky
, et al.
소스
Mitochondrion
. 24:S20
Web of Science
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7 .
Whole exome sequencing and whole mitochondrial genome sequencing for molecular diagnosis of mitochondrial disorders: Lessons from 865 Cases
저자
by
Mark A. Tarnopolsky
;
Amy Goldstein
;
Jane Juusola
;
Sumit Parikh
;
Dolores Arjona
, et al.
소스
Mitochondrion
. 24:S44
Web of Science
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7 .
PCR-based target sequence enrichment and next generation sequencing of 24 nuclear genes for the diagnosis of mitochondrial disorders: Yield of 262 cases
저자
by
Melanie Knight
;
Sumit Parikh
;
David Dimmock
;
Sharon F. Suchy
;
Barbara Boggs
, et al.
소스
Mitochondrion
. 12:588-589
Web of Science
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7 .
First-line genetic testing for mitochondrial disorders in the next-generation sequencing era: Comprehensive known disease gene panel or exome sequencing?
저자
by
Sherri J. Bale
;
Andrea L. Gropman
;
Kyle Retterer
;
Sabrina W. Yum
;
Fran Kendall
, et al.
소스
Mitochondrion
. 13:934
Web of Science
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7 .
Comprehensive analysis of entire mitochondrial genome by long-range PCR and next generation sequencing for the diagnosis of mitochondrial disorders: Yield of 216 cases
저자
by
Mark A. Tarnopolsky
;
Sabrina Buchholz
;
Gabriele Richard
;
Mustafa Saifi
;
Nizar Smaoui
, et al.
소스
Mitochondrion
. 12:588
Web of Science
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7 .
PCR-based targeted enrichment and next-generation sequencing of 101 nuclear genes for the diagnosis of mitochondrial disorders
저자
by
Nizar Smaoui
;
Renkui Bai
;
Rhonda Brandon
;
Sharon F. Suchy
;
Melanie Knight
, et al.
소스
Mitochondrion
. 12:589
Web of Science
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7 .
Intermediaries of Branched-Chain Amino Acid Metabolism Can Increase Fetal Hemoglobin In Vitro and In Vivo
저자
by
Sonja Hess
;
Himanshu Bhatia
;
Cynthia J. Tifft
;
Jane A. Little
;
Jaimie Higgs
.
소스
Blood
. 110:3834-3834
Full Text (ScienceDirect O/A)
Web of Science
Scopus
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