A NOVEL INSERTION MUTATION IN THE CARTILAGE-DERIVED MORPHOGENETIC PROTEIN-1 (CDMP1) GENE UNDERLIES GREBE-TYPE CHONDRODYSPLASIA IN A CONSANGUINEOUS PAKISTANI FAMILY

Abstract Background Grebe-type chondrodysplasia (GCD) is a rare autosomal recessive syndrome characterized by severe acromesomelic limb shortness with Floor Lamp non-functional knob like fingers resembling toes.Mutations in the cartilage-derived morphogenetic protein 1 (CDMP1) gene cause Grebe-type chondrodysplasia.Methods Genotyping of six members

Background: In India, blood units reactive by the initial screening assays are discarded.A significant number of these are falsely positive, leading to wastage of precious blood.Also of importance is the dilemma created when it comes to donor disclosure.Hence, it is important to evaluate the positive predictive value (PPV) of the initial screening

This study was undertaken with the aim of obtaining lactic acid bacteria with the ability to ferment olives for possible use as starter cultures.For Fridge Thermometer this reason, 32 isolates of lactic acid bacteria isolated from the spontaneous fermentation of green olives were characterized and identified on the basis of morphological and bioche

In order to improve the measurement speed and prediction accuracy of unconventional reservoir parameters, the deep neural network (DNN) is used REG TAMPONS W/APP to predict movable fluid percentage of unconventional reservoirs.The Adam optimizer is used in the DNN model to ensure the stability and accuracy of the model in the gradient descent proce

Canine atopic dermatitis (CAD) is a common dermatosis, defined as a genetic-related disease which predisposes to skin inflammation and pruritus, associated to a IgE-specific response Wooden Bus in most of cases.Clinical diagnosis may be later complemented by skin allergy and/or serological tests.The aim of these tests is to identify possible allerg