Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.
about
Characterization of Disease-Associated Mutations in Human Transmembrane ProteinsUtility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.A rare presentation: A case report of osseous metaplasia and mature bone formation in a follicular adenoma of the thyroid.Fibrodysplasia ossificans progressiva: Basic understanding and experimental models.
P2860
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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name
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.
@en
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.
@nl
type
label
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.
@en
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.
@nl
prefLabel
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.
@en
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.
@nl
P2093
P2860
P356
P1476
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.
@en
P2093
Carmen Rotaru
David Grynspan
FORGE Canada Consortium
Gail Graham
Jacek Majewski
Kheirie Issa
Matthew Bromwich
Monika Gos
Raveena Ramphal
P2860
P304
P356
10.1002/AJMG.A.36969
P407
P577
2015-04-21T00:00:00Z