Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.
about
Managing the patient with osteogenesis imperfecta: a multidisciplinary approach.Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective studyBone Material Properties in Osteogenesis Imperfecta.NBAS mutations cause acute liver failure: when acetaminophen is not a culpritNeuroblastoma amplified sequence gene mutation: A rare cause of recurrent liver failure in children.Targeted next‑generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome‑2.High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
P2860
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P2860
Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Neuroblastoma Amplified Sequen ...... rosis and developmental delay.
@en
type
label
Neuroblastoma Amplified Sequen ...... rosis and developmental delay.
@en
prefLabel
Neuroblastoma Amplified Sequen ...... rosis and developmental delay.
@en
P2093
P1476
Neuroblastoma Amplified Sequen ...... rosis and developmental delay.
@en
P2093
André Mégarbané
Catherine Caillaud
Cybel Mehawej
Fadi F Hamdan
Issam Khneisser
Jacques L Michaud
Zoha Kibar
P304
P356
10.1016/J.EJMG.2015.11.005
P577
2015-11-11T00:00:00Z