Rebekah K Jobling

3PUBLICATIONS
96CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseases
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Publications (3)

|Sep 11, 2025
Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.

Takanori Suzuki, Robert Lesurf, Rajadurai Akilen

|May 22, 2024
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.

Kaitlin J Stanley, Kelsey J Kalbfleisch, Olivia M Moran

|Jan 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske van Woerden

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