Results 201 to 210 of about 845,626 (266)

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez   +5 more
wiley   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

open access: yesArthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos   +2 more
wiley   +1 more source

Genome-Wide Association Analysis of Hippocampal Neuroplasticity as an Indicator of Stress Responsiveness in Laying Hens (Gallus gallus domesticus). [PDF]

open access: yesAnim Genet
Neuert L   +8 more
europepmc   +1 more source

Polygenic and Pleiotropic Adaptation of Yaks to High Altitudes: A Genome-Wide Study of Hematological and Physiological Traits. [PDF]

open access: yesAnim Genet
Sun G   +11 more
europepmc   +1 more source

Initial Genome-Wide Characterization of Turkmen Individuals from the Dashoguz Region, Turkmenistan. [PDF]

open access: yesBiology (Basel)
Zhaniyazov Z   +7 more
europepmc   +1 more source

Genome-Wide Association Study in European Beech (Fagus sylvatica L.) for Drought Stress Related Traits. [PDF]

open access: yesPhysiol Plant
Tost M   +8 more
europepmc   +1 more source

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