Results 61 to 70 of about 34,181 (294)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim   +9 more
wiley   +1 more source

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst   +4 more
wiley   +1 more source

Circulating Coxsackievirus A16 Identified as Recombinant Type A Human Enterovirus, China

open access: yesEmerging Infectious Diseases, 2011
To determine the relationship of coxsackievirus A16 (CA16) to prototype CA16-G10, we conducted a phylogenetic analysis of circulating CA16 strains in China.
Ke Zhao   +5 more
doaj   +1 more source

On the Prospects for African Philosophy in Australia

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This paper grapples with the situation of people of African descent in Australia by working through the constitution of the body of academic philosophy in the country. It contends with the parochialism of the Australian philosophical community and the prospects for the cultivation of greater pluralism. Taking African philosophy as one possible
Bryan Mukandi
wiley   +1 more source

Behavior Decoding Delineates Seizure Microfeatures and Associated Sudden Death Risks in Mouse Models of Epilepsy

open access: yesAnnals of Neurology, EarlyView.
Objective Behavior and motor manifestations are distinctive yet often overlooked features of epileptic seizures. Seizures can result in transient disruptions in motor control, often organized into specific behavioral sequences that can inform seizure types, onset zones, and outcomes.
Yuyan Shen   +8 more
wiley   +1 more source

Hand, foot, and mouth disease in an infant

open access: yesMedisan, 2019
The case report of a 9 months of age infant assisted in the emergency room of "José Martí"  Teaching Polyclinic in Santiago de Cuba is presented, due to exanthematic and erythematous lesions in the skin, with bladders around the mouth, as well as in ...
Sandra Caridad Laurencio Vallina   +2 more
doaj  

Mechanistic Insights Into Photocatalytic Materials for Toxic Pollutants: Environmental Remediation of Personal Care Products

open access: yesAsia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Photocatalytic materials have emerged as promising solutions for environmental applications due to their ability to degrade organic pollutants under sunlight or artificial light. In this review, recent progress on the photocatalytic materials used for the degradation of pharmaceutical personal care products (PPCPs) in environmental ...
Urvashi Sen   +5 more
wiley   +1 more source

High risk factors for severe hand, foot and mouth disease: A multicenter retrospective survey in Anhui Province China, 2008-2009

open access: yesIndian Journal of Dermatology, 2012
Objectives: This study sought to determine the high risk factors for severe hand, foot, and mouth disease (HFMD). Materials and Methods: Retrospective 229 severe HFMD cases from four hospitals in FuYang, HeFei, and BoZhou (Anhui Provincial Hospital ...
Jiahua Pan   +5 more
doaj   +1 more source

Skeletal pathologies in extant crocodilians as a window into the paleopathology of fossil archosaurs

open access: yesThe Anatomical Record, EarlyView.
Abstract Crocodilians, together with birds, are the only extant relatives to many extinct archosaur groups, making them highly important for interpreting paleopathological conditions in a phylogenetic disease bracketing model. Despite this, comprehensive data on osteopathologies in crocodilians remain scarce.
Alexis Cornille   +6 more
wiley   +1 more source

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