Results 141 to 150 of about 238,041 (341)
Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin +4 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura +2 more
wiley +1 more source
Advancing the diagnosis and classification of renal cell carcinomas
BMC Medicine, 2021 Joseph A. Rothwell
doaj +1 more source
Rise and fall of Achille de Giovanni\u2019s clinical anthropometry [PDF]
, 2018 Achille de Giovanni (1838-1916), Italian clinician and pathologist, developed a constitutional method for clinical investigations based on the morphology of the human body.
Zampieri, Fabio
core
Enhancing Clustering Accuracy Using K-Means with Seeds Optimization
Journal of Applied Informatics and ComputingIn this study, the development of the Mean-based method proposed by Goyal and Kumar will be carried out by changing the initial cluster center determination step, which was originally based on the origin point O (0,0), to be replaced with the arithmetic ...
Adiyah Mahiruna +5 more
doaj +1 more source
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao +122 more
wiley +1 more source
e-Kafkas Eğitim Araştırmaları DergisiThe aim of this study is to determine the effect of teaching the heredity subject with the Universal Design for Learning (UDL) on students' academic achievement towards science lesson. In addition, during the implementation of this teaching model, it was
Alev Rencüzoğulları, Tolga Saka
doaj +1 more source