Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes.
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Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue DiseaseClinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing.BRAT1 mutations present with a spectrum of clinical severity.Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.
P2860
Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes.
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2014 թվականի մարտին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年论文
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name
Diagnostic Exome Sequencing an ...... e of the MTR and LMBRD1 Genes.
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Diagnostic Exome Sequencing an ...... e of the MTR and LMBRD1 Genes.
@en
Diagnostic Exome Sequencing an ...... e of the MTR and LMBRD1 Genes.
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label
Diagnostic Exome Sequencing an ...... e of the MTR and LMBRD1 Genes.
@ast
Diagnostic Exome Sequencing an ...... e of the MTR and LMBRD1 Genes.
@en
Diagnostic Exome Sequencing an ...... e of the MTR and LMBRD1 Genes.
@nl
prefLabel
Diagnostic Exome Sequencing an ...... e of the MTR and LMBRD1 Genes.
@ast
Diagnostic Exome Sequencing an ...... e of the MTR and LMBRD1 Genes.
@en
Diagnostic Exome Sequencing an ...... e of the MTR and LMBRD1 Genes.
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P2093
P2860
P356
P1476
Diagnostic Exome Sequencing an ...... e of the MTR and LMBRD1 Genes.
@en
P2093
Elizabeth C Chao
Hsiao-Mei Lu
Joan E Pellegrino
Kelly D Farwell Gonzalez
Ryan T Miller
Wenqi Zeng
P2860
P356
10.1007/8904_2014_294
P577
2014-03-25T00:00:00Z