Results 161 to 170 of about 481,012 (228)

Novel MYL1 Intron Variant With Expanded Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington   +7 more
wiley   +1 more source

Digital Health Literacy in Elective Open-Heart Surgery Patients: Cross-Sectional Study. [PDF]

open access: yesJMIR Cardio
Daugaard R   +6 more
europepmc   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij   +5 more
wiley   +1 more source

Retraction Note: Restoring the Sense of Smell: A Systematic Review and Meta-Analysis of Biologic Therapies for Chronic Rhinosinusitis with Nasal Polyps. [PDF]

open access: yesCurr Allergy Asthma Rep
Pedersen CK   +7 more
europepmc   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra   +5 more
wiley   +1 more source

Correction: Appropriateness of antibiotic use in nursing homes for suspected urinary tract infections: comparison across five European countries. [PDF]

open access: yesEur Geriatr Med
Hansen MB   +17 more
europepmc   +1 more source

Homelessness Service Usage Patterns of 30,000 Homeless and At‐Risk Households: The Melbourne Access Point Study

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Over the last three decades, overseas researchers have utilised administrative data to identify distinct patterns in shelter use. In Australia, the use of administrative data to understand service utilisation patterns among people ‘at risk’ of homelessness and experiencing homelessness is limited.
Godwin Kavaarpuo   +2 more
wiley   +1 more source

Pre-hospital cardiac arrest: a call for moral agency in modern medical practice. [PDF]

open access: yesBMC Med Ethics
Joerck CL   +7 more
europepmc   +1 more source

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