Results 231 to 240 of about 1,602,934 (395)

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

De Novo Design of High‐Affinity Miniprotein Binders Targeting Francisella Tularensis Virulence Factor

open access: yesAngewandte Chemie, EarlyView.
Hybrid physics and deep‐learning enabled design methods identified miniprotein binders to Flpp3 (Francisella‐like lipoprotein), a key virulence factor from Francisella tularensis. Multiple candidates with nanomolar to picomolar binding affinities were obtained using yeast surface display screening and further experimental optimization.
Gizem Gokce‐Alpkilic   +18 more
wiley   +2 more sources

Community Acquired Pneumonia in Internal Medicine: A One-Year Retrospective Study Based on Pneumonia Severity Index [PDF]

open access: bronze, 2005
Graziano Riccioni   +9 more
openalex   +1 more source

Targeted Medical Therapies for Vascular Anomalies: A Clinical Review

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Vascular anomalies represent a broad spectrum of disorders characterized by aberrant blood or lymphatic vessel development, which can lead to complex clinical phenotypes. Historically, vascular anomalies were classified solely on the basis of their clinical and histopathologic features.
Whitney Eng
wiley   +1 more source

Increasing the pneumonia treatment coverage among children under 5 years old through 'Enhanced Management of Pneumonia in the Community': implementation research protocol. [PDF]

open access: yesBMJ Open
Nsona H   +15 more
europepmc   +1 more source

Comparative Safety Profiles of Ocrelizumab and Rituximab in Multiple Sclerosis Treatment Using Real‐World Evidence

open access: yesAnnals of Neurology, EarlyView.
Objective The objective of this study was to compare the long‐term safety profiles of ocrelizumab and rituximab in persons with multiple sclerosis (MS). Methods Using retrospective data from the University of California (UC) Health System, we simulated a target clinical trial. The primary cohort from UC San Francisco (UCSF) and a validation cohort from
Gabriel Cerono   +3 more
wiley   +1 more source

Consolidation-to-ground-glass opacity ratio on chest CT as a prognostic marker for critical outcomes in COVID-19: a retrospective cohort study. [PDF]

open access: yesBMC Pulm Med
Tanaka H   +33 more
europepmc   +1 more source

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