Results 121 to 130 of about 2,211,122 (242)

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Optical Binding Phenomena: Observations and Mechanisms [PDF]

, 2009
Novel results on the optical binding of optically-trapped micro-particles are presented. A sophisticated Mie scattering model is developed, capable of performing time-evolution simulations of a multi-particle system. This is used to analyse and interpret
TAYLOR, JONATHAN,MIDGLEY
core  

Advanced and autonomous applications of optical tweezers

The invention of the microscope in the late 16th century revealed a hid den microscopic world, allowing direct observation of structures and or ganisms beyond the limit of human vision.
Selin, Martin
core   +1 more source

Much more than their fangs: Macroscopic anatomy of the brain of Bothrops moojeni Hoge 1966 (Squamata, Serpentes, Viperidae)

The Anatomical Record, EarlyView.
Abstract Neuroanatomical research has progressed considerably in several vertebrate lineages, yet studies of reptilian brain morphology remain markedly underdeveloped. Here we provide the first description of macroscopic brain anatomy and its ontogeny in the viperid Bothrops moojeni, based on a sample of seven individuals.
Paula Araújo, Júlio César Costa de Souza, Angele Martins   +2 more
wiley   +1 more source

Morpho‐functional analyses of the jaw apparatus in the Blue‐and‐yellow Macaw (Ara ararauna, Psittaciformes, Aves): Adaptations to feeding behavior

The Anatomical Record, EarlyView.
Abstract Macaws are renowned for processing dry, mechanically resistant fruits, yet the species‐level anatomical and functional correlates of this performance remain incompletely resolved. We examined the feeding apparatus of the Blue‐and‐yellow Macaw (Ara ararauna) using an integrated approach that combines osteology, myology, and bite‐force estimates
Sérgio R. Posso, Ana Caroline M. Barbosa, Victor R. Caciatori   +2 more
wiley   +1 more source

Outcomes of Capsular Plication as Part of Hip Arthroscopic Management for Surgically Identified Microinstability Are Comparable to Outcomes in Matched Controls

Arthroscopy, EarlyView.
Purpose To compare 2‐year minimum outcomes of hip arthroscopic management with capsular plication in patients with microinstability with propensity‐matched controls. Methods We searched primary hip arthroscopies undertaken between August 2009 and December 2020 from a single‐surgeon database, excluding those with lateral center‐edge angle <18°, for ...
Catherine J. Bacon, Rowan P. Auchterlonie, Rebecca M. Woodward, Gen L. Foo, Man Lu, Abbey C. Lissaman, Matthew J. Brick   +6 more
wiley   +1 more source

Applications of microfluidic chips in optical manipulation & photoporation [PDF]

, 2010
Integration and miniaturisation in electronics has undoubtedly revolutionised the modern world. In biotechnology, emerging lab-on-a-chip (LOC) methodologies promise all-integrated laboratory processes, to perform complete biochemical or medical ...
Marchington, Robert F.
core  

Improvement in Patient‐Reported Outcomes, High Rate of Return to Sport, and Secondary Surgery Rate Ranging From 0% to 9.8% After Hip Arthroscopy in Dancers and Athletes in Flexibility Sports: A Systematic Review

Arthroscopy, Sports Medicine, and Rehabilitation, EarlyView.
Purpose To systematically review and report patient‐reported outcome measures (PROMs), rates of return to sport, and secondary surgeries in dancers and flexibility sport athletes who underwent hip arthroscopy. Methods Using the 2020 Preferred Reporting Items for Systematic Reviews and Meta‐Analyses criteria, a systematic review was performed with a ...
David R. Maldonado, Andrew R. Schab, Benjamin G. Domb   +2 more
wiley   +1 more source

Hip‐Specific Patient‐Reported Outcomes Strongly Correlate With Pain and Physical Function Metrics but not Mental Health Before and After Hip Arthroscopy for Femoroacetabular Impingement Syndrome

Arthroscopy, Sports Medicine, and Rehabilitation, EarlyView.
Purpose To assess the relationships between hip‐specific patient‐reported outcomes (PROs) metrics and general health and pain measures before and after hip arthroscopy for femoroacetabular impingement syndrome (FAIS). Methods This was a retrospective study of patients undergoing hip arthroscopy for FAIS at a single institution from 2014 to 2025.
Wyatt B. David, Luke Sang, Hayden Sampson, Zachary Brumm, Stephanie E. Wong, Alan L. Zhang   +5 more
wiley   +1 more source