Results 201 to 210 of about 769,922 (292)

Development of an Inchworm‐Like Dual‐Balloon‐Assisted Colonoscopic Robot Based on a Two‐Segment Extensible Continuum Section

open access: yesAdvanced Intelligent Systems, EarlyView.
This work presents an inchworm‐like dual‐balloon‐assisted colonoscopic robot (IDCR) based on a rod‐driven two‐segment continuum section. The IDCR enables the active straightening of the sigmoid colon through an inchworm‐like locomotion strategy, thereby avoiding loop formation.
Dezhi Song   +4 more
wiley   +1 more source

Feasibility of Robotic Hybrid CABG and Transcarotid TAVI for Severe Aortic Stenosis and Coronary Disease. [PDF]

open access: yesJACC Case Rep
Aluthman U   +6 more
europepmc   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli   +11 more
wiley   +1 more source

Surgical myectomy for hypertrophic cardiomyopathy: procedural volume and outcomes. [PDF]

open access: yesEur Heart J
Heeringa TJP   +15 more
europepmc   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert   +31 more
wiley   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright   +10 more
wiley   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner   +7 more
wiley   +1 more source

Home - About - Disclaimer - Privacy