Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins.

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Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins.

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

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name

Thoracic Hypoplasia at Birth a ...... man-Diamond Syndrome in Twins.

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Item

label

Thoracic Hypoplasia at Birth a ...... man-Diamond Syndrome in Twins.

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prefLabel

Thoracic Hypoplasia at Birth a ...... man-Diamond Syndrome in Twins.

@en

P1476

Thoracic Hypoplasia at Birth a ...... man-Diamond Syndrome in Twins.

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P2093

Angela Carla Borrelli

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Francesco Raimondi

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Julia Cerullo

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Letizia Capasso

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Maria Rosaria Pirozzi

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P2860

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA

Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.

The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast.

Syndrome of pancreatic insufficiency, blood dyscrasia and metaphyseal dysplasia.

Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.

Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome).

Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period.

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy.

P304

158-160

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P31

scholarly article

case report

P356

10.1055/S-0036-1584307

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P433

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P478

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P577

2016-05-30T00:00:00Z

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27617157

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P932

4999326

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