Results 231 to 240 of about 261,108 (323)

Randomized study assessing the effectiveness and safety of a novel scoring balloon for percutaneous coronary intervention: the Wedge NC trial. [PDF]

open access: yesJ Thorac Dis
Chen H   +13 more
europepmc   +1 more source

Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is an ultra‐rare condition belonging to the RASopathies, a group of disorders characterized by aberrant RAS/MAPK pathway signaling, which is involved in ocular development and in some eye pathologies. However, only a few studies assessing the ophthalmic features of individuals with CS are available.
Sofia Peschiaroli   +13 more
wiley   +1 more source

Relationship between gastric mucosal atrophy, cystic dilatation, and histopathological characteristics. [PDF]

open access: yesBMC Gastroenterol
Wang YK   +7 more
europepmc   +1 more source

Cardiac Dilatation Without Hypertrophy from Reduced Ambient Pressure in Rats [PDF]

open access: bronze, 1956
J. Clifford Stickney   +2 more
openalex   +1 more source

A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri   +3 more
wiley   +1 more source

Re-ballooning of sealing frame for intraoperative paravalvular leak during rapid deployment aortic valve replacement: a report of two cases. [PDF]

open access: yesGen Thorac Cardiovasc Surg Cases
Yuda K   +10 more
europepmc   +1 more source

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt   +4 more
wiley   +1 more source

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