Results 191 to 200 of about 465,889 (311)
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
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
Rx Dose of Reality: Using Real Disciplinary Cases to Teach Ethics and Professionalism in Residency. [PDF]
Bryant WW, Gibson-Oliver LE.
europepmc +1 more source
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source
From Care to Justice: Reframing Nursing Education Through Relational Ethics and Epistemic Inclusion. [PDF]
Assem-Erhaze EK.
europepmc +1 more source
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro +5 more
wiley +1 more source
Producing Mobility, Withholding Authority: Epistemic Drain and Nursing Sovereignty in Nepal. [PDF]
Ghimire A.
europepmc +1 more source
Ethics is the best professional policy
openaire +4 more sources

