CASE REPORT: EXPANDING THE PHENOTYPIC SPECTRUM OF TIMOTHY SYNDROME TYPE 1: A SPORADIC CASE WITH A DE NOVO CACNA1C PATHOGENIC VARIANT AND SEGMENTAL ILEAL DILATATION

Background: Long QT syndactyly syndrome (long QT syndrome type 8), also known click here as Timothy Syndrome (TS) was first described in 1994 with still <50 case reported in the literature.The full spectrum of the syndrome is not yet known.Results: Here we report a girl who presented with new onset refractory seizures and an undiagnosed cause of

We propose Nebula, a computational method for combinatorial optimization and stochastic sampling.The proposed method is designed for a generic local search engine utilized for digital annealing in an optimization system for multidimensional binary variables, and it can handle a variety of cost functions of multidimensional binary variables with mul

Recent trends sophie allport bee curtains for vehicular localization in millimetre-wave (mmWave) channels include employing a combination of parameters such as angle of arrival (AOA), angle of departure (AOD), and time of arrival (TOA) of the transmitted/received signals.These parameters are challenging to estimate, which along with the scat

Aiming at the problems of high temperature and high humidity in coal mining facing, this paper studies the heat distribution law of coal mining facing, compares and analyzes the enthalpy difference method and Sigma thermal difference method to calculate the air supply volume.Based on this, mechanical cooling scheme is scientifically formulated, yal