patient and family perspectives on generative ai tools in rare diseases exploratory mixed methods online survey

Original title: “Patient and Family Perspectives on Generative AI Tools in Rare Diseases: Exploratory Mixed Methods Online Survey.”

from infancy to early school age longitudinal developmental outcomes and autism diagnostic stability in tuberous sclerosis complex

Original title: “From Infancy to Early School Age: Longitudinal Developmental Outcomes and Autism Diagnostic Stability in Tuberous Sclerosis Complex.”

chronic draining xiphisternal fistula associated with fractured right coronary artery stent and transdiaphragmatic inflammatory extension a multimodality imaging and surgical correlation

Original title: “Chronic draining xiphisternal fistula associated with fractured right coronary artery stent and transdiaphragmatic inflammatory extension: a multimodality imaging and surgical correlation.”

synergistic cell cycle repression by hdac ezh2 co targeting in h3k27 altered diffuse midline glioma

Original title: “Synergistic cell-cycle repression by HDAC/EZH2 co-targeting in H3K27-altered diffuse midline glioma.”

update to the classification evaluation and management of childhood interstitial lung disease in infancy an official american thoracic society clinical practice guideline

Original title: “An Update to the Classification, Evaluation, and Management of Childhood Interstitial Lung Disease in Infancy: An Official American Thoracic Society Clinical Practice Guideline.”

prenatal care for disorders differences of sex development 10 years look back in an expert center

Original title: “Prenatal care for Disorders/Differences of Sex Development: 10-years look back in an expert-center.”

unusual cardiac complication of an odontogenic infection multimodality imaging in a rare infectious cascade

Original title: “An unusual cardiac complication of an odontogenic infection - multimodality imaging in a rare infectious cascade.”

expanding the phenotypic spectrum of farsa related interstitial lung disease a pediatric case series and literature review

Original title: “Expanding the phenotypic spectrum of FARSA-related interstitial lung disease: a pediatric case series and literature review.”

acute onset bilateral myopia induced by hydrochlorothiazide

Original title: “Acute-onset bilateral myopia induced by hydrochlorothiazide.”

congenital external carotid internal carotid artery anastomosis associated with moyamoya disease diagnosed by magnetic resonance angiography

Original title: “Congenital external carotid-internal carotid artery anastomosis associated with moyamoya disease diagnosed by magnetic resonance angiography.”

babesiosis at ultra low parasitemia presenting as secondary hemophagocytic lymphohistiocytosis in a patient on b cell depleting therapy

Original title: “Babesiosis at ultra-low parasitemia presenting as secondary hemophagocytic lymphohistiocytosis in a patient on B cell-depleting therapy.”

giant retinal telangiectasia after ophthalmic plaque radiation therapy

Original title: “Giant retinal telangiectasia after ophthalmic plaque radiation therapy.”

pseudolipoma of the glissonian capsule mimicking hepatic metastases after surgery for colorectal cancer the role of dual energy ct

Original title: “Pseudolipoma of the Glissonian capsule mimicking hepatic metastases after surgery for colorectal cancer: The role of dual-energy CT.”

cortical hyperexcitability shapes large scale brain dynamics and behavioral outcome in angelman syndrome

Original title: “Cortical Hyperexcitability Shapes Large-Scale Brain Dynamics and Behavioral Outcome in Angelman Syndrome.”

follicular predominant pretibial flegel s disease a unilateral folliculocentric presentation expanding the dermoscopic spectrum

Original title: “Follicular-predominant pretibial Flegel's disease: a unilateral folliculocentric presentation expanding the dermoscopic spectrum.”

researcher s guide to rodent models of down syndrome recent insights and translational perspectives

Original title: “A Researcher's guide to rodent models of Down syndrome: Recent insights and translational perspectives.”

whole genome sequencing in brazilian patients with neurofibromatosis type 1 including novel variants incidental findings and dual diagnoses

Original title: “Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses.”

hemoptysis secondary to right pulmonary artery aneurysm in beh et s disease a case report and literature review

Original title: “Hemoptysis Secondary to Right Pulmonary Artery Aneurysm in Behçet's Disease: A Case Report and Literature Review.”

beyond distal arthrogryposis refining the phenotypic landscape of piezo2 related disorders

Original title: “Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.”

does surgical approach influence benchmark attainment in intrahepatic cholangiocarcinoma

Original title: “Does Surgical Approach Influence Benchmark Attainment in Intrahepatic Cholangiocarcinoma?”