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Early Human Development|August 7, 2015
What do home videos tell us about early motor and socio-communicative behaviours in children with autistic features during the second year of life--An exploratory studyMichele Zappella, Christa Einspieler, Katrin D Bartl-Pokorny, et al.
European Journal of Medical Genetics|November 21, 2020
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotypeAurora Currò, Gabriella Doddato, Mirella Bruttini, et al.
Developmental Medicine and Child Neurology|February 22, 2012
Early speech-language development in females with Rett syndrome: focusing on the preserved speech variantPeter B Marschik, Giorgio Pini, Katrin D Bartl-Pokorny, et al.
American Journal of Medical Genetics. Part A|April 6, 2005
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q)Alfredo Orrico, Lucia Galli, Sabrina Buoni, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|December 6, 2005
Myoclonic encephalopathy in the CDKL5 gene mutationSabrina Buoni, Raffaella Zannolli, Vito Colamaria, et al.
Human Mutation|July 9, 2004
Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplicationFrancesca Ariani, Francesca Mari, Chiara Pescucci, et al.
Research in Developmental Disabilities|June 16, 2012
Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndromePeter B Marschik, Walter E Kaufmann, Christa Einspieler, et al.
American Journal of Medical Genetics|February 22, 2002
Analysis of ten candidate genes in autism by association and linkageAnne Philippe, Michel Guilloud-Bataille, Maria Martinez, et al.
European Journal of Human Genetics : EJHG|April 8, 2004
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangementsIlaria Longo, Luisa Russo, Ilaria Meloni, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|February 16, 2010
EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndromeSabrina Buoni, Raffaella Zannolli, Claudio De Felice, et al.
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