Results 261 to 270 of about 525,291 (388)

Effect of neurohormonal therapeutic in left ventricle global and regional function in Chagas cardiomyopathy in a translational animal experimental model. [PDF]

open access: yesSci Rep
Tanaka DM   +13 more
europepmc   +1 more source

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT P21‐activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)—a developmental disorder primarily characterized by ocular anomalies ...
Elizabeth A. Werren   +10 more
wiley   +1 more source

Anatomical Determinants of STN Coordinate Shift in Idiopathic Parkinson's Disease DBS Surgery. [PDF]

open access: yesCNS Neurosci Ther
Hasimoglu O   +7 more
europepmc   +1 more source

MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis   +12 more
wiley   +1 more source

Emergency Ultrasound in the Context of Cardiac Arrest and Circulatory Shock: "How to Avoid Cardiac Arrest". [PDF]

open access: yesLife (Basel)
Horn R   +7 more
europepmc   +1 more source

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