CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo +18 more
wiley +1 more source
A Case of Isolated Aortic Regurgitation, Later Diagnosed as Takayasu Arteritis: An Importance of Physical Examinations. [PDF]
Penjor T +5 more
europepmc +1 more source
Accreditation Against Limited Adversarial Noise
An upgraded accreditation (a variant of quantum verification) scheme is presented, significantly relaxing the assumptions, to allow adversarial noise, while preserving the suitability for near‐term / immediate usage. Abstract An accreditation protocol (a variety of quantum verification) is presented, where error is assumed to be adversarial (in ...
Andrew Jackson
wiley +1 more source
Robotic mitral valve repair in the setting of mitral annular calcification. [PDF]
Pickering T +4 more
europepmc +1 more source
Patient‐Reported‐Outcome‐Measures (PROMs) After Gastrointestinal Endoscopic Resections
ABSTRACT Background Data on patient‐reported outcome measures (PROMs) of patients undergoing endoscopic resections have been sparse. The aim of our study was the prospective assessment of the Gastrointestinal Quality of Life Index (GIQLI) as a baseline and post‐endoscopic resection (ER) measurement in patients with epithelial mucosal neoplasms ...
Laura Retzbach +4 more
wiley +1 more source
Case Report: Skeletal and cardiovascular alterations compatible with a connective tissue disorder in an elderly dog. [PDF]
Bilgiç B +4 more
europepmc +1 more source
Classification of primary mitral regurgitation using extramitral cardiac involvement in patients undergoing transcatheter edge‐to‐edge repair [PDF]
Danon Kaewkes +8 more
openalex +1 more source
Chronic Mitral Regurgitation and Aortic Regurgitation
openaire +1 more source

