Results 161 to 170 of about 908,962 (359)
Handheld ultrasound in cardiology: Current perspective [PDF]
, 2023 Dominika Filipiak‐Strzecka +2 more
openalex +1 more source
Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat +4 more
wiley +1 more source
Is a US analysis of cost-effectiveness in interventional cardiology relevant to a centrally funded health care system? [PDF]
, 1997 D.C. Cumberland
openalex +1 more source
Reasons and resolutions for gender inequality among cardiologists and cardiology trainees [PDF]
, 2023 Clara Portwood
openalex +1 more source
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle +26 more
wiley +1 more source
ZSF1 lean rats – How healthy are they?
Animal Models and Experimental Medicine, EarlyView.This study aimed to examine the health status, specifically the physiology and myocardial, vascular, and skeletal muscle function of lean ZSF1 rats by comparing them to age‐ and sex‐matched Wistar rats. Compared to Wistar controls, ZSF1 lean rats exhibited lower body weight, but showed increased heart, and skeletal muscle mass.
Antje Schauer +4 more
wiley +1 more source
Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas
Annals of Neurology, EarlyView.Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek +7 more
wiley +1 more source