Enrico Bertini

机构：Bambino Gesù Children's Hospital · ORCID：0000-0001-9276-4590

发表论文 1252 篇 · 总被引 57599 次 · h-index 116

代表论文

• Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022 (2026 · Orphanet Journal of Rare Diseases · 被引 3)
• A comprehensive framework for the interpretation of TTN missense variants (2026 · Genome Medicine · 被引 2)
• Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly (2026 · Genetics in Medicine · 被引 1)
• Effects of combined nutritional interventions on the natural history of X‐linked adrenoleukodystrophy in female carriers (2026 · Journal of Neuroendocrinology)
• Characterizing obsessive-compulsive features in Duchenne muscular dystrophy: a DSM-5 approach (2026 · Neuromuscular Disorders)
• GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder (2026 · Brain)