Context. Leri-Weill dyschondrosteosis is a clinically variable skeletal dysplasia, caused by SHOX deletion or mutations, or a deletion of enhancer sequences in the 3'-flanking region. Recently, a 47.5 kb recurrent PAR1 deletion downstream of SHOX was reported, but its frequency and clinical importance are still unknown. Objective. This study aims to compare the clinical features of different si...

The phenotype of 11q terminal deletion also known as Jacobsen syndrome is a clinically well known entity whose diagnosis in infancy and childhood is based on clinical examination, hematological and cytogenetic findings. Hematological features in Jacobsen syndrome are very similar to those reported in Paris-Trousseau syndrome (PTS) which is also associated with11q terminal deletion. Karyotype an...

Deletions within the dystrophin gene (DMD) account for >70% of mutations leading to Duchenne and Becker muscular dystrophies (DMD and BMD). Deletion breakpoints were reported to be scattered within regions that also represent meiotic recombination hot spots. Recent studies indicates that deletion junctions arise from nonhomologous end joining (NHEJ), a major pathway for repairing DNA double-str...

Secondary data analysis of complex sample survey results is common among social scientists. Yet, the degree to which unbiased estimates and accurate inferences can be made from complex samples depends on the care researchers take when analyzing the data, including strategies for the treatment of missing data. Several studies have illustrated that the results of subpopulation analysis may diverg...

Background: In discrete-time event history analysis, subjects are measured once each time period until they experience the event, prematurely drop out, or when study concludes. This implies measuring status of a subject in determines whether (s)he should be subsequent periods. For that reason, intermittent missing causes problem because, unlike other repeated measurement designs, it does not ma...

Many search users fail to formulate queries that can well represent information needs. As a result, they often need to reformulate the queries in order to find satisfying results. Query term deletion is one of the commonly used strategies for query reformulation. In this paper, we study the problem in the context of TREC session track. We first show that the reformulated queries used in the ses...

spinal muscular atrophy (sma) is a common autosomal recessive neuromuscular disorder caused by the loss of α-motor neurons in the spinal cord. the survival motor neuron (smn) protein is encoded by 2 genes, smn1 and smn2. the most frequent mutation is the biallelic deletion of exon 7 of the smn1 gene. smn2 cannot compensate for the loss of smn1, due to the exclusion of exon 7. carrier frequency ...