Results 181 to 190 of about 270,863 (296)

Patient‐Mounted Neuro Optical Coherence Tomography for Targeted Minimally Invasive Micro‐Resolution Volumetric Imaging in Brain In Vivo

open access: yesAdvanced Intelligent Systems, Volume 7, Issue 3, March 2025.
Herein, a patient‐mounted neuro optical coherence tomography system that integrates a 5 degrees‐of‐freedom skull‐mounted robot (Skullbot) with a 0.6 mm neuroendoscope for targeted, minimally invasive deep brain imaging, is developed. The system offers high‐resolution imaging with precise deployment, demonstrated through successful tumor imaging in a ...
Chao Xu   +7 more
wiley   +1 more source

Frameless stereotactic brain biopsy and external ventricular drainage placement using the RONNA G4 system. [PDF]

open access: yesJ Surg Case Rep, 2022
Raguž M   +8 more
europepmc   +1 more source

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro   +10 more
wiley   +1 more source

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa   +23 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

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