A rare cause of epileptic encephalopathy: case report of a novel patient with PEHO-like phenotype and CCDC88A gene pathogenic variants von Papuc, Sorina-Mihaela, Glangher, Adelina, Erbescu, Alina, Arsene, Oana Tarta, Arghir, Aurora, Budisteanu, Magdalena

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Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome von Papuc, Sorina Mihaela, Erbescu, Alina, Glangher, Adelina, Streata, Ioana, Riza, Anca-Lelia, Budisteanu, Magdalena, Arghir, Aurora

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Recognition of early warning signs and symptoms by caregivers, general practitioners and paediatricians – the first steps on the road to Autism Spectrum Disorder diagnosis von Budisteanu, Magdalena, Linca, Florentina, Andrei, Lucia Emanuela, Mateescu, Laura, Glangher, Adelina, Doina Ioana, Severin, Emilia, Riga, Sorin, Rad, Florina

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A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder—Case Report von Oros, Mihaela, Baranga, Lucica, Glangher, Adelina, Adina-Diana, Moldovan, Jugulete, Gheorghita, Pavelescu, Carmen, Mihaltan, Florin, Plaiasu, Vasilica, Gheorghe, Dan Cristian

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