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Journal of the Neurological Sciences|June 4, 2021
Seizure outcome after epilepsy surgery in tuberous sclerosis complex: Results and analysis of predictors from a multicenter studyC Vannicola, L Tassi, C Barba, et al.
Clinical Genetics|September 17, 2013
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of casesC Fallerini, L Dosa, R Tita, et al.
Neurology|March 23, 2007
Phenotypic clustering of lamin A/C mutations in neuromuscular patientsS Benedetti, I Menditto, M Degano, et al.
Clinical Genetics|August 2, 2011
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1BC Halgren, S Kjaergaard, M Bak, et al.
American Journal of Medical Genetics. Part A|February 14, 2009
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literatureL Garavelli, M Zollino, P Cerruti Mainardi, et al.
European Journal of Medical Genetics|April 24, 2012
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardationE K Bijlsma, A Collins, F T Papa, et al.
Genetics in Medicine Open|December 13, 2024
ARID1B-related disorder in 87 adults: Natural history and self-sustainabilityP J van der Sluijs, M Gösgens, A J M Dingemans, et al.
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