… (AS) to assist the clinician in making a timely and accurate diagnosis. Considering the …
was to convene a group of scientists and clinicians, with experience in AS, to develop a concise …

We interpret Global Positioning System (GPS) measurements in the northwestern United
States and adjacent parts of western Canada to describe relative motions of crustal blocks, …

… a … A and B in Table I1 should have a chromosome study as well as molecular analysis
by FISH, polymorphism analysis, or methylation testing to look for alterations in 15qll-q13. A …

… The risk to sibs of a proband depends on the genetic mechanism of the loss of the … with
a deletion or uniparental disomy; as high as 50% for probands with an imprinting defect or a …

… deletion or their UPD as a consequence of a translocation or other structural abnormality …
Among those with a defect in the imprinting process, a proportion have been shown to have a …

We have used a three‐dimensional elastic finite element model to examine the effects of
topography on the surface deformation predicted by models of magma chamber deflation. We …

… This is a crucial issue since it addresses not only the basic mechanism behind the genesis
of neurofibromas, but may also indicate a mechanism common to many or all NF1 features. …

… in JP–HHT patients do show a tendency to cluster in the MH2 … Any JP patient with a SMAD4
mutation is, therefore, at risk for … In conclusion, a patient who tests positive for any SMAD4 …

… a parametric surface representation, so that the depth to the interface can be determined for
any desired point. We use a … of a GMT grd file (Wessel and Smith, 1995), and a Python script …

Macrocephaly is associated with many genetic disorders and is a frequent cause of referral
to the clinical geneticist. In this review we classify the commonly encountered macrocephaly …