Title | Published on | Year |
---|---|---|
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome | AMERICAN JOURNAL OF HUMAN GENETICS | 2024 |
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic Implications | GENES | 2023 |
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