Results 171 to 180 of about 539,380 (315)

Artificial intelligence in ophthalmology: From diagnostic accuracy to clinical application. [PDF]

open access: yesWorld J Methodol
Zeppieri M   +11 more
europepmc   +1 more source

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

open access: yesAmerican 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   +5 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

A decade of artificial intelligence research in ophthalmology: Global trends and transferable insights for medical AI. [PDF]

open access: yesPLOS Digit Health
Fan Z   +16 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

North American Delphi Consensus Study on Sinonasal Malignancy Survivorship Care

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Survival for patients with sinonasal cancers has improved over the past decades, but there are no dedicated survivorship guidelines for this cohort. Objective To understand experts’ priorities and perspectives on key survivorship tenets (surveillance, second tumor screening, toxicity, and symptom management).
Matheus Sewastjanow‐Silva   +18 more
wiley   +1 more source

Autonomic Nerve Fiber Compositions of Zygomaticotemporal and Lacrimal Nerves: A Cadaveric Immunohistochemical Analysis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
Key Points Zygomaticotemporal (ZTN) and lacrimal nerves (LN) both carried sympathetics and parasympathetics ZTNs had more parasympathetics than LNs, but markers varied significantly within and between nerves LN parasympathetics to the lacrimal gland may mitigate dry eye after vidian ...
Bushra Rahman   +8 more
wiley   +1 more source

Home - About - Disclaimer - Privacy