Results 91 to 100 of about 66,934 (291)

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero   +17 more
wiley   +1 more source

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa   +4 more
wiley   +1 more source

The Relationship between Rest Tremor and Underlying Lewy Pathology in Essential Tremor: A Clinical‐Pathological Study of 201 Cases

open access: yesAnnals of Neurology, EarlyView.
Objectives Prospective studies demonstrated that essential tremor is a risk factor for Parkinson's disease. Identifying clinical markers for conversion from essential tremor to essential tremor‐Parkinson's disease would be of considerable value. Rest tremor can be present in advanced essential tremor and may be a harbinger of conversion. We examined (1)
Elan D. Louis   +3 more
wiley   +1 more source

Physicochemical and Biological Properties of ZnO‐Incorporated Natural Rubber for Potential Wound Dressing Applications

open access: yesJournal of Applied Polymer Science, EarlyView.
ABSTRACT Antibiotic resistance has driven the search for effective alternatives in wound dressing development to reduce infection risk. In this context, incorporating metal particles into natural polymers has gained attention due to the synergistic properties of this combination.
Renata Leme   +6 more
wiley   +1 more source

Who was the real sabertooth predator: Thylacosmilus or Thylacoleo?

open access: yesThe Anatomical Record, EarlyView.
Abstract Sabertoothed mammalian predators, all now extinct, were almost exclusively feloid carnivorans (Eutheria, Placentalia): here a couple of extinct metatherian predators are considered in comparison with the placental sabertooths. Thylacosmilus (the “marsupial sabertooth”) and Thylacoleo (the “marsupial lion”) were both relatively large (puma ...
Christine M. Janis
wiley   +1 more source

Ultrasound-Assisted Posteromedial Portal Placement of the Elbow Joint to Prevent Ulnar Nerve Injury

open access: yesArthroscopy Techniques, 2017
Direct posterior and posterolateral portals are the standard portals used in posterior elbow arthroscopy. A posteromedial portal in the elbow is not recommended because of its proximity to the ulnar nerve.
Hiroshi Ohuchi, M.D., Ph.D.   +6 more
doaj  

A proximodistal gradient in bone structure and mechanics in the wings of Seba's short‐tailed bat, Carollia perspicillata

open access: yesThe Anatomical Record, EarlyView.
Abstract Bats possess the remarkable ability to fly, and with this, distinctive wing bone properties. We investigated the structural, mechanical, and compositional properties of the humerus, radius, metacarpals, and proximal and middle phalanges of Carollia perspicillata, an approximately 15 g fruit‐eating bat native to the Neotropics.
Xiaoxiang Ma   +4 more
wiley   +1 more source

Wearable exoskeleton robot control using radial basis function‐based fixed‐time terminal sliding mode with prescribed performance

open access: yesAsian Journal of Control, EarlyView.
Abstract This paper tackles the problem of robust and accurate fixed‐time tracking in human–robot interaction and deals with uncertainties. This work introduces a control approach for a wearable exoskeleton designed specifically for rehabilitation tasks.
Mahmoud Abdallah   +4 more
wiley   +1 more source

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