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HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME

Known as: HLTS 
 
National Institutes of Health

Related topics

Related topics

9 relations
Absent eyebrowAutosomal recessive inheritanceHypotrichosisSOX18 wt Allele
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Broader (2)

LymphedemaTelangiectasis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.
The SOX18 gene encodes a transcription factor that plays a notable role in certain developmental contexts such as… Expand
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2016
2016
A new method to diagnose discoid lateral menisci on radiographs
PurposeThe aim of this study was to prove that it is feasible to diagnose discoid lateral meniscus in radiographs. Plain… Expand
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2015
2015
Hypotrichosis‐lymphedema‐telangiectasia‐renal defect associated with a truncating mutation in the SOX18 gene
SOX18 mutations in humans are associated with both recessive and dominant hypotrichosis–lymphedema–telangiectasia syndrome (HLTS… Expand
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2012
2012
Development and validation of a general health literacy test in Singapore.
Due to the concern of equating correct pronunciation with comprehension and the differences in health care systems, existing… Expand
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2011
2011
TLR2‐dependent modulation of dendritic cells by LT‐IIa‐B5, a novel mucosal adjuvant derived from a type II heat‐labile enterotoxin
A host of human pathogens invades the body at mucosal surfaces. Yet, strong, protective mucosal immune responses directed against… Expand
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Highly Cited
2004
Highly Cited
2004
Explicating the Role of Mathematical Tasks in Conceptual Learning: An Elaboration of the Hypothetical Learning Trajectory
Simon's (1995) development of the construct of hypothetical learning trajectory (HLT) offered a description of key aspects of… Expand
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2004
2004
A rabbit model for evaluation of surgical anesthesia and analgesia: characterization and validation with isoflurane anesthesia and fentanyl analgesia
PurposeWith a clamp test, quantitative estimation of the level of surgical anesthesia/analgesia is not easy. We have developed a… Expand
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2003
2003
An Animal Model for Surgical Anesthesia and Analgesia: Characterization with Isoflurane Anesthesia and Remifentanil Analgesia
With a traditional clamp test alone, quantitative evaluation of the level of surgical anesthesia/analgesia is not easy. We have… Expand
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1990
1990
Efficient signal coding with hierarchical lapped transforms
  • H. S. Malvar
  • International Conference on Acoustics, Speech…
  • 1990
    • Corpus ID: 62298887
The hierarchical lapped transform (HLT) is defined. It is based on the modulated lapped transform (MLT). The HLT has a much lower… Expand
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Highly Cited
1988
Highly Cited
1988
The pathology of combined heart-lung transplantation: an autopsy study.
Clinical heart-lung transplantation (HLT) began at Stanford University (Stanford, CA) in 1981, and since then, over 40 HLTs have… Expand
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