Results 201 to 210 of about 30,290 (266)

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda   +5 more
wiley   +1 more source

“It's Not Deterministic and It Will Never Be Deterministic”: A Qualitative Study on Stakeholder Perspectives of Polygenic Risk Score Testing for Post‐Traumatic Stress Disorder

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Post‐traumatic stress disorder (PTSD) causes significant mental and physical distress, yet only a small subset of individuals exposed to trauma develop the disorder. Scientists and clinicians are still unable to predict who will get the disorder or how it will manifest.
Brandy M. Fox
wiley   +1 more source

Metalens for passive generation of a droplet Bessel beam. [PDF]

open access: yesMicrosyst Nanoeng
Jo Y   +6 more
europepmc   +1 more source

Prospective Study on the Evaluation of Echocardiographic Parameters as Predictors of a Positive Response to Cardiac Resynchronization Therapy in a Tertiary Care Hospital in Mexico. [PDF]

open access: yesJ Clin Med
Plata-Corona JC   +6 more
europepmc   +1 more source

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