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You searched for: Author/Creator Joynt, Alyssa C. M.

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1. A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies. Issue 11 (8th October 2021)

2. Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges. Issue 10 (22nd June 2021)