Results 241 to 250 of about 537,300 (352)
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu +23 more
wiley +1 more source
Equine models in translational medicine: A comparative approach to human health
Animal Models and Experimental Medicine, EarlyView.This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh +1 more
wiley +1 more source
Neovascularização da retina em hemoglobinopatia SC e hemorragia vítrea
, 1997 Maria Teresa Brizzi Chizzotti Bonanomi +1 more
openalex +1 more source
Annals of Neurology, EarlyView.Objective Our goal was to examine whether pre‐diagnostic plasma carotenoids and tocopherols are associated with amyotrophic lateral sclerosis (ALS). Methods A nested case–control study within 4 United States cohorts, where 154 participants with pre‐diagnostic blood‐draw, were diagnosed during follow‐up with amyotrophic lateral sclerosis (ALS). Controls
Éilis J. O'Reilly +7 more
wiley +1 more source