Results 101 to 110 of about 269,908 (274)
Clinical Genetics, EarlyView.Key features of paralogous GRIA2 and GRIA3 gain‐of‐function variants. ABSTRACT GRIA‐related disorders arise from disease‐causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid (AMPA)‐type glutamate receptors (AMPARs).
Emilie Sjøstrøm +24 more
wiley +1 more source
STRANGULATION OF AN INFANTILE UMBILICAL HERNIA. [PDF]
The Lancet, 1906 n ...
openaire +2 more sources
Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity
Clinical Genetics, EarlyView.A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis +14 more
wiley +1 more source
RADICAL CURE OF UMBILICAL HERNIA. [PDF]
JAMA: The Journal of the American Medical Association, 1907 The older methods of operation for the radical cure of large umbilical hernias were so unpromising that few surgeons cared to attack them unless forced to do so by acute conditions. Not only was the prospect of relief uncertain, but there was considerable danger attending the operation itself because of increased intraabdominal tension, as the ...
openaire +2 more sources
Journal of Medical Cases, 2019 Flood syndrome is caused by spontaneous rupture of an umbilical hernia in a patient with tense, long-standing ascites. It is a rare complication of hepatic cirrhosis and has a high mortality rate.
Gavin Liu +4 more
semanticscholar +1 more source
Engineering Intervertebral Disc Regeneration: Biomaterials, Cell Sources and Animal Models
Cell Proliferation, EarlyView.This review highlights the current tissue engineering approaches utilising biomaterials, animal models and cell sources for intervertebral disc regeneration and discusses future opportunities. ABSTRACT Intervertebral disc (IVD) degeneration is an age‐related problem triggering chronic spinal issues, such as low back pain and IVD herniation.
Sidong Yang +8 more
wiley +1 more source
UMBILICAL HERNIA IN CALVES: INCIDENCE AND TREATMENT
The Iraqi Journal of Veterinary Medicine, 1996 Six thousandand thirty three calves have been examined for umbilical hernia within the years 1990 to 1995 in 3 different veternary clinics and 688 (11.4%) were suffering from umbilical hernia.
R. N. I ALASAD, A. J. GHAZI
doaj +1 more source
Neonatal diabetes mellitus is a significant feature of COXPD‐24 caused by recessive NARS2 variants
Diabetic Medicine, EarlyView.Abstract Background Recessive loss‐of‐function NARS2 variants causing the multi‐system disorder Combined oxidative phosphorylation deficiency 24 (COXPD24) have recently been reported in 3 individuals with diabetes diagnosed between 3 days and 14 months of age. In this study, we investigate the presence of NARS2 variants in a large cohort of individuals
Russell Donis +18 more
wiley +1 more source