Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit
about
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.Exploiting the potential of next-generation sequencing in genomic medicine.Autosomal recessive primary microcephaly due to ASPM mutations: An update.Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.
P2860
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit
description
2012 nî lūn-bûn
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2012年の論文
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2012年論文
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2012年論文
@zh-hant
2012年論文
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2012年論文
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2012年論文
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2012年论文
@wuu
2012年论文
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2012年论文
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name
Exome sequencing overrides for ...... ocephalic intellectual deficit
@en
type
label
Exome sequencing overrides for ...... ocephalic intellectual deficit
@en
prefLabel
Exome sequencing overrides for ...... ocephalic intellectual deficit
@en
P2093
P2860
P50
P1433
P1476
Exome sequencing overrides for ...... ocephalic intellectual deficit
@en
P2093
P2860
P304
P356
10.1111/J.1399-0004.2012.01901.X
P577
2012-07-23T00:00:00Z