Bianconi, Simona

Pathogenesis, epidemiology, diagnosis and clinical aspects of smith-lemli-opitz syndrome

Bianconi, S. E., Cross, J. L., Wassif, C. A., & Porter, F. D. (2015) · Expert Opinion on Orphan Drugs

Metabolism and Genetic DisordersGenetic and rare skin diseases.

Cited by 84

Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update

Thurm, A., Tierney, E., Farmer, C., Albert, P., Joseph, L., Swedo, S., Bianconi, S., Bukelis, I., Wheeler, C., Sarphare, G., et al. (2016) · Journal of Neurodevelopmental Disorders

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 73

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders

Farmer, C. A., Kaat, A. J., Thurm, A., Anselm, I., Akshoomoff, N., Bennett, A., Berry, L., Bruchey, A., Barshop, B. A., Berry-Kravis, E., et al. (2020) · American Journal on Intellectual and Developmental Disabilities

Psychometric Methodologies and TestingAutism Spectrum Disorder Research

Cited by 62