Chiara Perrìa

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients

Lucia Micale, Bartolomeo Augello, Claudia Maffeo et al. · Human Mutation · 2014 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

Gloria Negri, Pamela Magini, Donatella Milani et al. · Human Genetics · 2019 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients

Annalisa Sechi, Laura Deroma, Andrea Dardis et al. · Molecular Genetics and Metabolism · 2014 · 22 citations

Life Sciences, Biochemistry, Pharmacotherapy +11

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of <i>CREBBP</i>

Andrea Angius, Paolo Uva, Manuela Oppo et al. · American Journal of Medical Genetics Part A · 2019 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Donor splice‐site mutation in <i>CUL4B</i> is likely cause of X‐linked intellectual disability

Eric Londin, Jeffrey Adijanto, Nancy J. Philp et al. · American Journal of Medical Genetics Part A · 2014 · 16 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17