Abstract: With the continuous development and update of the 3rd Generation Partnership Project (3GPP) standards, the protocols themselves have become more complex and diverse, leading to various ...
We aimed to describe the frequency and yield of genetic testing in supravalvar aortic stenosis (SVAS) following negative evaluation for Williams‐Beuren syndrome (WS). When WS is excluded, gene ...
Morning Overview on MSN
Long-read RNA sequencing tool boosts rare-disease diagnoses missed by DNA tests
For years, two siblings with the distinctive facial features of Treacher Collins syndrome had no genetic explanation for ...
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