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SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY

Known as: SIFD 
 
National Institutes of Health

Papers overview

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2019
2019
We present a regularized finite difference method for the logarithmic Schr\"odinger equation (LogSE) and establish its error… Expand
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2019
2019
The I326T mutation in the TRNT1 gene encoding human tRNA nucleotidyltransferase (tRNA-NT) is linked to a relatively mild form of… Expand
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2018
2018
Objectives To characterise the clinical features, immune manifestations and molecular mechanisms in a recently described… Expand
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2018
2018
In molecular dynamics simulations, nanochannel flows are usually driven by a constant force, that aims to represent a pressure… Expand
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2018
2018
We read with great interest the paper of Giannelou et al 1 reporting, for the first time, the efficacy of tumour necrosis factor… Expand
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2017
2017
SIFD describes a heritable, syndromic condition characterised principally by sideroblastic anaemia (SA) with immunodeficiency… Expand
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2016
2016
BackgroundSIFD (Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay) is a novel form of… Expand
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Highly Cited
2014
Highly Cited
2014
Mutations in genes encoding proteins that are involved in mitochondrial heme synthesis, iron-sulfur cluster biogenesis, and… Expand
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Highly Cited
2013
Highly Cited
2013
Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders identified by pathological erythroid… Expand
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2013
2013
Hughes, Denise K. Bonney, Sylvia S. Bottomley, Mark D. Fleming and Robert F. Wynn Major-Cook, Caroline Kannengiesser, Isabelle… Expand
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