Increasingly effective targeted precision medicine is either already available or in development for a number of genetic childhood movement disorders. Patient-centred, personalized approaches include the repurposing existing treatments specific conditions and novel therapies that target underlying defect disease mechanism. In tandem with these scientific advances, close collaboration between cl...

Introduction It has been almost 30 years since the first human nuclear receptor (NR) disorders were characterized at the molecular level (Figure 1). Since then, disorders associated with genetic defects in 20 of the 48 known human NRs have been identified (Figure 1 and Tables 1 and 2). In this Review we provide a brief overview of the range of human NR-associated diseases reported to date and h...

Three hundred and fifty pregnancies were monitored by transabdominal amniocentesis in the fourteenth to sixteenth week of gestation followed by karyotyping or biochemica assays of cultured amniotic fluid cells and analysis of alpha-fetoprotein in the amniotic fluid supernatant. The pregnancy was interrupted in 36 cases (10%) either becasue of a fetal abnormality or the presence of a male fetus ...

UNLABELLED The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of these syndromes indicated clients diag...

Medical Genetics is going through rapid growth with the help of evolving high throughput technologies and collaborative work across various scientific areas. Human genome sequencing opened the flood gate in identifying gene mutations for hundreds of genetic diseases and the genetic markers associated with complex disease risk factors. This decade can be considered as the golden age of medical g...

The study of language in developmental disorders is an important endeavour for several reasons. First, it is essential to identify areas of relative strength and weakness in order to gain a profile of the disorder, so that we may best support and facilitate the development of language and communication skills in these individuals. Second, such research allows us the opportunity to gain an insig...

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