SB
0000-0003-0336-7097 Employment
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Publications (50)
- Luteolin use in Integrated Stress Response: insight from a case of EIF2AK2-related dystonia Save
- The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population Save
- Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients Save
- Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who? Save
- Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype Save
- Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes Save
- Non-syndromic sensorineural prelingual and postlingual hearing loss due to col11a1 gene mutation Save
- Clinical genetics can solve the pitfalls of genome-wide investigations: Lesson from mismapping a loss-of-function variant in KANSL1 Save
- Corrigendum to: Characterization of intellectual disability and autism comorbidity through gene panel sequencing (Human Mutation, (2019), 40, 9, (1346-1363), 10.1002/humu.23822) Save
- Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype Save
- Characterization of intellectual disability and autism comorbidity through gene panel sequencing Save
- Homozygous recessive versican missense variation is associated with early teeth loss in a pakistani family Save
- Report of a novel ATP7A mutation causing distal motor neuropathy Save
- A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature Save
- Clinical and genetic Rett syndrome variants are defined by stable electrophysiological profiles 11 Medical and Health Sciences 1109 Neurosciences Save
- Cochlear malformation and sensorineural hearing loss in the Silver-Russell Syndrome Save
- Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care Save
- The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders Save
- Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes Save
- Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay Save