Results 121 to 130 of about 36,422 (225)

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

open access: yesClinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw   +30 more
wiley   +1 more source

Four‐Chamber Deformation Remodeling and Atrial Fibrillation After Septal Myectomy for Obstructive Hypertrophic Cardiomyopathy

open access: yesEchocardiography, Volume 43, Issue 8, August 2026.
After septal myectomy for hypertrophic obstructive cardiomyopathy, the four chambers of the heart experience unique remodeling patterns that can be visualized with speckle‐tracking strain analysis on echocardiography. This study characterizes those changes and links them to clinical outcomes such as post‐operative atrial fibrillation risk, thereby ...
Olga N. Kislitsina   +10 more
wiley   +1 more source

[Heart septal defects, ventricular].

open access: yesActa chirurgica Iugoslavica, 1977
I, Papo   +7 more
openaire   +1 more source

Physiological and Behavioural Characterisation of a Novel Steroid Sulfatase‐Deficient Mouse

open access: yesGenes, Brain and Behavior, Volume 25, Issue 4, August 2026.
STS‐deficient mice are grossly healthy and breed as expected, but are mildly hyperactive and have heavier hearts compared with sex‐matched wildtype controls. ABSTRACT Steroid sulfatase (STS) cleaves sulphate groups from steroid hormones. In humans, STS deficiency is associated with X‐linked ichthyosis, an increased predisposition to neurodevelopmental ...
Trevor Humby   +7 more
wiley   +1 more source

The Serum Testosterone Level in Male Patients Is Inversely Associated With Hypertension Incidence

open access: yesThe Journal of Clinical Hypertension, Volume 28, Issue 8, August 2026.
ABSTRACT Hypertension is a primary risk factor for cardiovascular diseases and all‐cause mortality. Testosterone, the most potent androgen in males, regulates reproduction, metabolism, and erythropoiesis. Hypertension incidence increases with age, whereas testosterone levels decline. Thus, we conducted a study to explore the association between the two
Huan‐dong Wu   +5 more
wiley   +1 more source

Percutaneous Transcatheter Closure of Post-Infarction Ventricular Septal Rupture. [PDF]

open access: yesJACC Case Rep
Habib F   +4 more
europepmc   +1 more source

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