Results 221 to 230 of about 745,128 (377)
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim +9 more
wiley +1 more source
Fixed Versus Patient-Specific Trigger Delay in High-Pitch Computed Tomography Angiography of the Aorta Prior to Transcatheter Aortic Valve Implantation: Assessment of Image Quality and Homogeneity of Vessel Enhancement. [PDF]
Sahin-Uzuner S +9 more
europepmc +1 more source
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley +1 more source
An Innovative Technique for the Repair of Long-Segment Juxtaductal Coarctation of the Aorta in Neonates and Infants. [PDF]
Kumar R +4 more
europepmc +1 more source
Waves Across the Coral Reef Aorta: Intravascular Lithotripsy in Juxtarenal Aortic Occlusive Disease
Nicola Troisi +2 more
openalex +1 more source
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan +4 more
wiley +1 more source
Agonist‐Induced Endothelium‐Dependent Relaxation in Rat Thoracic Aorta May Be Mediated through cGMP
R. Rapoport, F. Murad
semanticscholar +1 more source
CADAVERIC STUDY OF BRANCHES OF ARCH OF AORTA [PDF]
Sharadkumar Pralhad Sawant +1 more
openalex +1 more source

