Results 231 to 240 of about 452,165 (315)

Exploring the Burden on Patients Living With and Receiving Treatment for Immune Thrombocytopenia (ITP): Patient and Physician Perceptions From the ITP World Impact Survey (I‐WISh) 2.0

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Limited data exist on how patients and physicians perceive immune thrombocytopenia (ITP) symptoms and treatment‐related burden. I‐WISh (ITP World Impact Survey) 2.0 surveyed 1018 patients and 431 physicians in 15 countries to characterize the impact of ITP and its treatments on patients.
Nichola Cooper   +17 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

Synthesizing Research on Language Learning and Teaching

open access: yes
This volume presents the first collection of work on research synthesis in applied linguistics. It introduces readers­ ­to a cutting-edge approach for reviewing and summarizing exactly what accumulated research has to say about theoretical and practical ...
Norris, John M., Ortega, Lourdes.
core  

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

Introducing AI & Innovation

open access: yes
AI &Innovation, EarlyView.
Mirko Farina   +7 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

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