Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.
about
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babiesPartial Deletion of Chromosome 1p31.1 Including only the Neuronal Growth Regulator 1 Gene in Two SiblingsA Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing.The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
P2860
Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.
description
2008 nî lūn-bûn
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2008年の論文
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2008年学术文章
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2008年学术文章
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2008年学术文章
@zh-hans
2008年学术文章
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2008年学术文章
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2008年學術文章
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2008年學術文章
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2008年學術文章
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name
Interstitial deletion of 1p22. ...... th global developmental delay.
@en
Interstitial deletion of 1p22. ...... th global developmental delay.
@nl
type
label
Interstitial deletion of 1p22. ...... th global developmental delay.
@en
Interstitial deletion of 1p22. ...... th global developmental delay.
@nl
prefLabel
Interstitial deletion of 1p22. ...... th global developmental delay.
@en
Interstitial deletion of 1p22. ...... th global developmental delay.
@nl
P2093
P50
P356
P1476
Interstitial deletion of 1p22. ...... ith global developmental delay
@en
P2093
Gloria Nie
Ikuko Teshima
Joe T R Clarke
Nicola K Poplawski
P304
P356
10.1002/AJMG.A.32255
P407
P577
2008-06-01T00:00:00Z