Craniolenticulosutural Dysplasia

Known as: Boyadjiev-Jabs Syndrome, CLSD 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2004-2015
01220042015

Papers overview

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2016
2016
Using whole-exome sequencing, we identified homozygous mutations in two unlinked genes, SEC23A c.1200G>C (p.M400I) and MAN1B1 c… (More)
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2015
2015
As a result of a whole-exome sequencing study, we report three mutant alleles in SEC24D, a gene encoding a component of the COPII… (More)
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2011
2011
Cranio-lenticulo-sutural dysplasia (CLSD) is a rare autosomal recessive syndrome manifesting with large and late-closing… (More)
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2011
2011
In order to meet the high data rate, large capacity and low latency in LTE, advanced MIMO technology has been introduced in LTE… (More)
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Highly Cited
2007
Highly Cited
2007
Proteins trafficking through the secretory pathway must first exit the endoplasmic reticulum (ER) through membrane vesicles… (More)
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Highly Cited
2006
Highly Cited
2006
Cranio-lenticulo-sutural dysplasia (CLSD) is an autosomal recessive syndrome characterized by late-closing fontanels, sutural… (More)
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2006
2006
In this paper, process of the Czech Lombard Speech Database (CLSD’05) acquisition is presented. Feature analyses have proven a… (More)
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2005
2005
This paper focuses on three Czech speech databases recorded in actual and simulated noisy conditions and explores their… (More)
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2005
2005
Abstract: In this paper, speech parameters sensitive to Lombard effect (LE) are analyzed and compared for several Czech speech… (More)
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2004
2004
STUDY DESIGN Prospective cohort study of rehab program completers, comparing aerobic capacity data of chronic lumbar spinal… (More)
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