American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...
Russell Stewart +336 more
wiley +1 more source
Nested Selves: Self‐Organization and Shared Markov Blankets in Prenatal Development in Humans
Topics in Cognitive Science, EarlyView., 2023 Abstract The immune system is a central component of organismic function in humans. This paper addresses self‐organization of biological systems in relation to—and nested within—other biological systems in pregnancy. Pregnancy constitutes a fundamental state for human embodiment and a key step in the evolution and conservation of our species. While not
Anna Ciaunica +3 more
wiley +1 more source
Improving Prolog Programs: Refactoring for Prolog
, 2004 Refactoring is an established technique from the OO-community to restructure code: it aims at improving software readability, maintainability and extensibility.
A. Pettorossi +10 more
core +1 more source
Microcomputer-controlled polarographic instrumentation and its use in the determination of stability constants of crown ether complexes [PDF]
, 1985 A computer-controlled polarographic system is described, based on a commercially available polarograph interfaced to a microcomputer. Experiments are controlled and monitored entirely from software, including automatic evaluation of the Tast polarograms ...
Bos, M. +3 more
core +3 more sources
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions.
Dee Adedipe +19 more
wiley +1 more source
Permian Large Igneous Provinces and Their Paleoenvironmental Effects
Geophysical Monograph Series, Page 417-434., 2021 Exploring the links between Large Igneous Provinces and dramatic environmental impact
An emerging consensus suggests that Large Igneous Provinces (LIPs) and Silicic LIPs (SLIPs) are a significant driver of dramatic global environmental and biological changes, including mass extinctions.
Jun Chen, Yi‐Gang Xu
wiley +1 more source
Offline Specialisation in Prolog Using a Hand-Written Compiler Generator
, 2004 The so called "cogen approach" to program specialisation, writing a compiler generator instead of a specialiser, has been used with considerable success in partial evaluation of both functional and imperative languages.
Bruynooghe, Maurice +3 more
core +1 more source
The Cost of the National Disability Insurance Scheme: Australia's Print‐Media Discourse
Australian Journal of Social Issues, EarlyView.ABSTRACT This paper examines the way that Australian newspapers have framed the cost of the National Disability Insurance Scheme (NDIS). Introduced in 2013, the NDIS represented a major change in Australia's disability support policy, moving for the first time to a nationwide universal insurance model.
Meera Chinnappa +2 more
wiley +1 more source
Classes of Terminating Logic Programs
, 2002 Termination of logic programs depends critically on the selection rule, i.e. the rule that determines which atom is selected in each resolution step.
Pedreschi, Dino +2 more
core +2 more sources
0D Fluorescent Nanomaterials: Preparation, Properties, and its Antibacterial Applications
Advanced NanoBiomed Research, EarlyView.This article reviews the synthesis methods and typical properties of representative 0D fluorescent nanomaterials such as carbon dots, quantum dots, and metal nanoclusters, while also exploring their antibacterial applications in various fields including medical and health care, food, agriculture, and industry.
Tianyi Lu +7 more
wiley +1 more source