Titolo | Pubblicato in | Anno |
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Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2? | GENES | 2022 |
Clinical and molecular aspects of the neurodevelopmental disorder associated with PAK3 perturbation | JOURNAL OF MOLECULAR NEUROSCIENCE | 2021 |
Koolen de Vries Sundrome in the first adulthood patient of Southern India Ancestry | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | 2020 |
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