Charles A. Williams

Roberto T Zori2
Heather J Stalker2
Aditi I Dagli2
2Roberto T Zori
2Heather J Stalker
2Aditi I Dagli
1Michael J Haller
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PURPOSE The primary goal of this case study was to describe the speech, prosody, and voice characteristics of a mother and daughter with a breakpoint in a balanced 7;13 chromosomal translocation that disrupted the transcription gene, FOXP2 (cf. J. B. Tomblin et al., 2005). As with affected members of the widely cited KE family, whose communicative disorders(More)
This information is distributed solely for the purpose of predissemination peer review and must not be disclosed, released, or published until after approval by the U.S. Geological Survey (USGS). It is deliberative and predecisional information and the findings and conclusions in the document have not been formally approved for release by the USGS. It does(More)
The Angelman syndrome is clinically delineated by the combination of seizures, absent speech, hypermotoric and ataxic movements and certain remarkable behaviors. Those with the syndrome have a predisposition toward apparent happiness and paroxysms of laughter, and this finding helps distinguish Angelman syndrome from other ones involving severe(More)
We use GPS displacements collected in the 15 months after the 1999 Chi-Chi, Taiwan earthquake (M w 7.6) to evaluate whether post-seismic deformation is better explained by afterslip or viscoelastic relaxation of the lower crust and upper mantle. We find that all viscoelas-tic models tested fail to fit the general features in the post-seismic GPS(More)
This report is a meeting summary of the 2010 Angelman Syndrome Foundation's scientific symposium on the neuroscience of UBE3A. Angelman syndrome is characterized by loss of speech, severe developmental delay, seizures, and ataxia. These core symptoms are caused by maternal allele disruptions of a single gene-UBE3A. UBE3A encodes an E3 ubiquitin ligase that(More)
Goldenhar Syndrome is characterized by craniofacial, ocular and vertebral defects secondary to abnormal development of the 1st and 2nd branchial arches and vertebrae. Other findings include cardiac and vascular abnormalities. Though these associations are known, the specific anomalies are not well defined. We present a 7-month-old infant with intermittent(More)
Multifactorial inheritance is the most important model accounting for the genetic behavior of the common epilepsies. Important to this model is the concept that many cumulative or synergistic risk genes ultimately lead to a threshold effect. Sophisticated molecular testing indicates that the common epilepsies are very polygenic without evidence of any(More)
Neonatal diabetes mellitus (NDM) is a rare metabolic disorder, affecting approximately 1 in 500,000 live births. The management of NDM is challenging, as the benefits of controlling hyperglycemia must be balanced with the risks of iatrogenic hypoglycemia. NDM occurs in both permanent and transient forms, which have been genetically and phenotypically well(More)