Hüseyin Onay

TL;DR: As a more effective therapy for this common, often disfiguring pigmentary disorder is direly needed, it must strive harder to settle the pathogenesis debate definitively – on the basis of sound experimental evidence, rather than by a war of dogmatic theories.

TL;DR: Lability associated with respectively affective and nonaffective symptom domains, in interaction with environmental risks, may operate by impacting differentially over a quasi-continuous extended psychosis phenotype in the population.

TL;DR: CGL patients from Turkey had both previously reported and novel mutations of the AGPAT2, BSCL2, and PTRF genes, highlighting the early onset of severe metabolic abnormalities and increased risk of end-organ complications in patients with CGL.

TL;DR: In this paper, the authors carried out mutational analysis of LMNA in additional patients with MAD and type A lipodystrophy, and reported a patient carrying compound heterozygous mutations in an endoprotease, zinc metalloproteinase (ZMPSTE24), gene that is involved in posttranslational processing of prelamin A to mature lamin A.

TL;DR: Investigation of the genetic etiology of autosomal recessive nonsyndromic hearing loss in a Turkish cohort including individuals with cochlear implant, who had a pedigree suggestive of an autosome recessive inheritance confirmed the usefulness of targeted sequencing approach in NSHL.