Results 171 to 180 of about 354,465 (294)

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy. [PDF]

Clin Genet
Johannesen KM, Grønskov K, Kessel L, Holstein SLV, Møller LB, Andersen MKG, Khinchi MS, Hamann S, Wegener M, Bertelsen M.   +9 more
europepmc   +1 more source

IF201b Temporal Cupping with Dominant Hereditary Optic Atrophy

1969. Dominant hereditary optic atrophy (Kjer) Pair with IF2_1a. Left eye. Boy with reduced central acuity since childhood. and the temporal nerve fiber layer is thin. Anatomy: Optic disc. Pathology: Dominant hereditary optic atrophy. Disease/ Diagnosis:
William F. Hoyt, MD
core  

“Smelltronics”—From Gas to Smell Sensing

Advanced Materials, EarlyView.
The emerging field of smelltronics, encompassing sensing technologies for complex volatile organic compounds, holds significant potential for extracting valuable chemical information. It facilitates the noninvasive, real‐time monitoring of humans, food, and the environment.
Takeshi Ono, Tsunaki Takahashi, Jiangyang Liu, Haruka Honda, Zeng Jing, Wataru Tanaka, Takuro Hosomi, Takeshi Yanagida   +7 more
wiley   +1 more source

Rhesus macaques with an <i>OPA1</i> mutation demonstrate features of autosomal dominant optic atrophy. [PDF]

Proc Natl Acad Sci U S A
Jaggers TN, Ripolles-Garcia A, Moshiri A, Story BD, Wang J, Chen R, Moore LG, Teixeira LBC, Shim J, Raposo AC, Casanova MI, Le SM, Park S, Young LJ, Kim S, Roszak KP, Ureno V, Karpinen PM, Echeverria N, Ardon M, Leonard BC, Knipe M, Bliss-Moreau E, Fortune B, Stout JT, Rogers J, Marsh-Armstrong N, Thomasy SM.   +27 more
europepmc   +1 more source

A Geometrically Transient Platform for Bioelectronic Implants

Advanced Materials, EarlyView.
Minimally invasive bioelectronic implants often compromise performance for smaller sizes. To resolve this optimization dilemma, a wireless bioelectronic implant with a transient geometry is introduced (MiFi). The origami‐inspired device miniaturizes up to sixfold for syringe insertion and autonomously unfolds post‐implantation.
Selin Olenik, John D. Goodwin, Atharv Naik, Philip Coatsworth, Ioi Chit Cheung, Farbod Amirghasemi, Anies Sohi, Ehsan Abedi, Tayeb Tadlaoui, Maral P. S. Mousavi, Andriy S. Kozlov, Victoria Salem, Andrew S. Cowburn, Firat Guder   +13 more
wiley   +1 more source

A Case Report of Unilateral <i>OPA3</i>-Related Dominant Optic Atrophy. [PDF]

Case Rep Ophthalmol
Ware MA, Li HC, Micieli J.
europepmc   +1 more source

Can Elastomers Combine Stiffness, Toughness and Fatigue Resistance?

Advanced Materials, EarlyView.
This review studies how the molecular and macroscopic architecture of elastomers influence their mechanical properties including: stiffness, stretchability, toughness, fatigue resistance, and damping behavior. By linking the structure to performance, it proposes design principles for advanced elastomeric systems that combine mechanical properties ...
Eva Baur, Esther Amstad
wiley   +1 more source

Second Prenatal Diagnosis of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome in a Fetus With a 5q14.3q15 Deletion: A Case Report and Review of the Literature. [PDF]

Clin Case Rep
Hao Y, Huang Q, Xu Y, Li X, Li P, Wu W, Wu B, Liu W.   +7 more
europepmc   +1 more source

IF205b Temporal Cupping with Dominant Hereditary Optic Atrophy

1970. Left eye. Pair with IF2_5a. 55 year old woman with deficient vision all her life. Typical pattern of dominant hereditary atrophy. Temporal pallor and shallow cupping. Anatomy: Optic disc. Pathology: Dominant hereditary optic atrophy.
William F. Hoyt, MD
core  

Sustainable Poly(Lactic Acid)/Graphene Oxide Bioelectronic Platform for Neurotransmitters Sensing and Tunable Stimulation of Astrocytes

Advanced Materials, EarlyView.
This work introduces sustainable PLA/graphene oxide bioelectronic interfaces featuring electrodes with tunable conductivity and strong electrocatalytic performance. These platforms were used to implement a new method for tuning astrocyte Ca2+ signaling and for the efficient detection of key biomarkers.
Alessandra Scidà, Giulia Cazzador, Roberta Fabbri, Matteo Calosi, Alessandro Silvestri, Andrea Candini, Fabiola Liscio, Franco Corticelli, Aikaterini Konstantoulaki, Andrea D'Iorio, Marco Caprini, Vincenzo Palermo, Monica Bertoldo, Valentina Benfenati, Chiara Zanardi, Emanuele Treossi   +15 more
wiley   +1 more source