4 results on '"Abreu, Nicolas J."'
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2. Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction
3. Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophy
4. Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2
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