Results 191 to 200 of about 138,611 (238)

Germline and somatic mutations in histologically atypical congenital hyperinsulinism. [PDF]

Front Endocrinol (Lausanne)
Larsen AR, Globa E, Andersen DC, Limbert C, Mattsson ÅL, Nielsen AL, Mortensen MB, Hejbøl EK, Brusgaard K, Detlefsen S, Christesen HT.   +10 more
europepmc   +1 more source

Overlap of Congenital Deafness and Long QT Syndrome With Distinct Genetic Basis: A Diagnostic Challenge. [PDF]

JACC Case Rep
Pirah R, Ali A, Qadir F, Mumtaz Z, Alam M, Mohsin M.   +5 more
europepmc   +1 more source

Combined complement and coagulation activation in ST-elevation myocardial infarction: associations with myocardial injury and dysfunction. [PDF]

Front Immunol
Kluge KE, Halvorsen S, Andersen GØ, Hansen CH, Seljeflot I, Tønnessen T, Lunde IG, Helseth R.   +7 more
europepmc   +1 more source

A Nationwide Danish Comparative Effectiveness Study of GLP-1 RA, SGLT2i and DPP-4i Treatment on Risk of Stroke, Myocardial Infarction and Mortality in Type 2 Diabetes. [PDF]

Endocrinol Diabetes Metab
Hastrup S, Hedegaard JN, Andersen G, Osler M, Rungby J, Johnsen SP.   +5 more
europepmc   +1 more source

<i>Streptococcus pyogenes</i> induced septic arthritis of the wrist secondary to a temporal abscess and trapezoid fracture - A case report. [PDF]

Trauma Case Rep
Cetinkaya M, Andersen FF, Pedersen P, Karimi D, Maleitzke T.   +4 more
europepmc   +1 more source

AI-Based Algorithm to Detect Heart and Lung Disease From Acute Chest Computed Tomography Scans: Protocol for an Algorithm Development and Validation Study.

JMIR Res Protoc
Olesen ASO, Miger K, Ørting SN, Petersen J, de Bruijne M, Boesen MP, Andersen MB, Grand J, Thune JJ, Nielsen OW.   +9 more
europepmc   +1 more source

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Andersen–Tawil syndrome: Clinical and molecular aspects

International Journal of Cardiology, 2013
Andersen–Tawil syndrome (ATS) is a rare hereditary multisystem disorder. Ventricular arrhythmias, periodic paralysis and dysmorphic features constitute the classic triad of ATS symptoms. The expressivity of these symptoms is, however, extremely variable, even within single ATS affected families, and not all ATS patients present with the full triad of ...
Hoai-Linh, Nguyen, Gerard H, Pieper, Ronald, Wilders   +2 more
openaire   +4 more sources

Andersen-Tawil syndrome

International Journal of Cardiology, 2011
Advances in the understanding of genetic aspects of cardiovascular diseases, together with an increase in the availability of genetic analysis, have resulted in not only increased diagnosis of known inherited conditions, but also the identification of novel syndromes.
Robin A.P. Weir, Colin J. Petrie, Victoria Murday, Iain N. Findlay   +3 more
openaire   +1 more source

Andersen-Tawil syndrome

Andersen-Tawil syndrome (ATS) is one of the periodic paralyses, a set of skeletal muscle disorders that cause transient weakness of the arms and legs lasting minutes to many hours. Distinguishing features of ATS include facial and limb dysmorphisms, cardiac arrhythmia, difficulties with executive function, and association with dominant mutations in the
Jill A, Goslinga, Louis J, PtáČek, Rabi, Tawil, Alexander, Fay   +3 more
openaire   +2 more sources