Neuroblastoma amplified sequence gene mutation: A rare cause of recurrent liver failure in children.

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Neuroblastoma amplified sequence gene mutation: A rare cause of recurrent liver failure in children.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

@yue

2017年論文

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2017年論文

@zh-hk

2017年論文

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2017年論文

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2017年论文

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2017年论文

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2017年论文

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Neuroblastoma amplified sequen ...... ent liver failure in children.

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Neuroblastoma amplified sequen ...... ent liver failure in children.

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Neuroblastoma amplified sequen ...... ent liver failure in children.

@en

Neuroblastoma amplified sequen ...... ent liver failure in children.

@nl

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Neuroblastoma amplified sequen ...... ent liver failure in children.

@en

Neuroblastoma amplified sequen ...... ent liver failure in children.

@nl

P1476

Neuroblastoma amplified sequen ...... ent liver failure in children.

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P2093

Alaa I Iskandarani

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Ashraf F Alsahafi

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Ayman I Shawli

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Ghassan A Sukkar

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Mansour A Qurashi

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Mohammed Y Hasosah

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P2860

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.

Identification of a mutation in LARS as a novel cause of infantile hepatopathy.

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.

P304

206-208

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P31

scholarly article

case report

P356

10.4103/1319-3767.207714

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P433

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P478

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P577

2017-05-01T00:00:00Z

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P698

28611345

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P932

5470381

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