FAQ

SMITH-KINGSMORE SYNDROME

Known as: MACROCEPHALY, SEIZURES, MENTAL RETARDATION, UMBILICAL HERNIA, AND FACIAL DYSMORPHISM, SKS 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1998-2017
012319982017

Related topics

Related topics

10 relations
Autosomal dominant inheritanceFrontal bossingHypoglycemiaImmunoglobulin A deficiency (disorder)
(More)

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
SMITH-KINGSMORE SYNDROME
Seizures
Thrombocytopenia
Hypoglycemia
Autosomal dominant inheritance
Intellectual Disability

Papers overview

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2017
2017
Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.
Heterozygous germline mutations in MTOR have been shown to underlie Smith-Kingsmore syndrome, a rare autosomal dominant syndrome… (More)
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2013
2013
Biomechanical comparison of four technique for pelvic flexure enterotomy closure in horses.
OBJECTIVE To compare 4 techniques for pelvic flexure enterotomy closure in horses. STUDY DESIGN Ex-vivo study. SAMPLE… (More)
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2011
2011
Characterizations of the Shakil-Kibria-Singh Distribution
Characterizations of a continuous univariate distribution due to Shakil, Kibria and Singh (2010) (SKS), based on a simple… (More)
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2008
2008
Finite-Frequency SKS Splitting: Measurement and Sensitivity Kernels
Splitting of SKS waves caused by anisotropy may be analyzed by measuring the splitting intensity, i.e., the amplitude of the… (More)
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2007
2007
Modeling two-dimensional structure at the core-mantle boundary
  • D. V. Heimberger
  • 2007
Recent studies of SKS waveform modeling emphasize the strong variation of seismic properties at the core-mantle boundary (CMB… (More)
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Review
2006
Review
2006
Ontological test of the IAT 1 Running Heading: ONTOLOGICAL TEST OF THE IAT An ontological test of the IAT: Self-activation can increase predictive validity
Extensive research has been conducted demonstrating the predictive validity and reliability of the IAT for a broad array of… (More)
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2006
2006
Auxiliary Material for Paper 2004JB003574 A strong lateral shear velocity gradient and anisotropy heterogeneity in the lowermost mantle beneath the southern Pacific
Figure S2 shows the geographic distribution of dT(SKKS-SKS) at CMB entry and exit points, and a general agreement with the trend… (More)
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2005
2005
Signal restoration through deconvolution applied to deep mantle seismic probes
In [1] we present a method of signal restoration to improve the signal to noise ratio, sharpen seismic arrival onset, and act as… (More)
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2002
2002
Imaging the mantle beneath Iceland using integrated seismological techniques
[1] Using a combination of body wave and surface wave data sets to reveal the mantle plume and plume head, this study presents a… (More)
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1998
1998
Anisotropy and Flow in Pacific Subduction Zone Back-arcs
We have obtained constraints on the strength and orientation of anisotropy in the mantle beneath the Tonga, southern Kuril, Japan… (More)
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