Iascone, Maria

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: Phenotype comparison in two related syndromes

Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., et al. (2020) · Journal of Intellectual Disability Research

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 33

Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring

Bonaventura, E., Alberti, L., Lucchi, S., Cappelletti, L., Fazzone, S., Cattaneo, E., Bellini, M., Izzo, G., Parazzini, C., Bosetti, A., et al. (2023) · Frontiers in Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 27

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

Oppermann, H., Marcos-Grañeda, E., Weiss, L. A., Gurnett, C. A., Jelsig, A. M., Vineke, S. H., Isidor, B., Mercier, S., Magnussen, K., Zacher, P., et al. (2023) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 18

Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance

Giacomozzi, C., Martin, A., Fernández, M. C., Gutiérrez, M., Iascone, M., Domené, H. M., Dominici, F. P., Bergadá, I., Cangiano, B., Persani, L., et al. (2023) · The Journal of Clinical Endocrinology & Metabolism

Growth Hormone and Insulin-like Growth FactorsGenomics and Rare Diseases

Cited by 10