WWOX and metabolic regulation in normal and pathological conditions. [PDF]
J Mol Med (Berl), 2022 Baryła I, Kośla K, Bednarek AK.
europepmc +1 more source
Gastric pseudoaneurysm in the setting of Loey’s Dietz Syndrome [PDF]
, 2012 Loey’s Dietz syndrome is a disorder of connective tissue caused by a mutation in the genes that encode transforming growth factor (TGF) beta receptor 1 and 2.
Johston, Troy Alan, Likes, Maggie L.
core
Treatment of Electrical Storm with Amiodarone in Brugada Syndrome- an Unexpected Protective Effect [PDF]
, 2013 We are reporting on a 53 year old man with proven Brugada syndrome and ICD implantation for resuscitation in context of polymorphic VT. After recurrent arrhythmia he was treated with Amiodarone.
Novak, J, Lambiase, PD
core
Acute coronary syndrome in diclofenac sodium-induced type I hypersensitivity reaction : Kounis syndrome [PDF]
, 2007 Drug-induced type I hypersensitivity reactions are frequent. Sometimes, acute coronary syndrome (ACS) can be registered in such patients, which may have a serious impact on the course and management of the allergic reaction.
Panic, Milos +5 more
core
DOORS syndrome: Phenotype, genotype and comparison with coffin-siris syndrome
, 2014 DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures.
Child Health +2 more
core
Rapid exome sequencing: revolutionises the management of acutely unwell neonates. [PDF]
Eur J Pediatr, 2021 Williamson SL +6 more
europepmc +1 more source
Assessing Survivor Syndrome During Economic Recession In New Zealand [PDF]
, 2010 The present study aimed to gain an understanding of and assess survivor syndrome during the time of economic crises among public service employees in New Zealand.
Singh, Sirjana
core
WWOX P47T partial loss-of-function mutation induces epilepsy, progressive neuroinflammation, and cerebellar degeneration in mice phenocopying human SCAR12. [PDF]
Prog Neurobiol, 2023 Hussain T +10 more
europepmc +1 more source
Offending Behaviour in Adults with Asperger Syndrome
, 2016 Source: David Allen, Carys Evans, Andrew Hider, Sarah Hawkins, Helen Peckett & Hugh Morgan (2008). Offending Behaviour in Adults with Asperger Syndrome. J Autism Dev Disord. 38:748--758.
aspie
core