Journal Papers 41 Related Insights 0
Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypes Nosrati, Mohammad Sadegh Shams; Romano, Ferruccio; Dostmohammadi, Alireza; Traverso, Monica; Nemati, Amir Hesam; Madia, Francesca; De Marco, Patrizia; Doustmohammadi, Morteza; Iacomino, Michele; Tavassol, Zahra Hoseini; Boogari, Mahsa; Khorasanian, Reihaneh; Omrani, Mir Davood; Zara, Federico; Scala, Marcello Share Save
Tachycardiomyopathy-like presentation in neonatal MCAD deficiency: A novel cardiac phenotype Morana, Elisabetta; Baronio, Federico; Lanari, Marcello; Candela, Egidio; Ortolano, Rita; Bonetti, Simone; Bronzetti, Gabriele; Biasucci, Giacomo; Hasan, Tammam; Ragni, Luca; Donti, Andrea Share Save
The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype analysis Buoncuore, Giorgia; Salvatore, Marco; Rocchetti, Adele; Facciaroni, Lorenzo; Veneselli, Edvige; Elia, Maurizio; Russo, Silvia; Armando, Michelina; Germano, Michele; Prisco, Tommaso; Sartori, Stefano; Marinella, Gemma; Battini, Roberta; Gobbi, Giuseppe; Torreri, Paola Share Save
Thoracic chordoma following intracranial meningioma in a patient with a novel germline SMARCE1 variant Tsurubuchi, Takao; Yamaki, Yuni; Fukushima, Hiroko; Sato, Kosuke; Takahashi, Hiroshi; Karita, Hiroki; Sakamoto, Noriaki; Mizumoto, Masashi; Nakai, Kei; Sakurai, Hideyuki; Muroi, Ai; Matsuda, Masahide; Takada, Hidetoshi; Ishikawa, Eiichi Share Save
A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: Phenotypic and genotypic expansion Romano, Ferruccio; Nosrati, Mohammad Sadegh Shams; Madia, Francesca; Ognibene, Marzia; Traverso, Monica; Breda, Marta; Dostmohammadi, Alireza; Scala, Marcello; Zara, Federico; Mancardi, Maria Margherita; Capra, Valeria Share Save
Diagnostic yield of whole exome sequencing in a cohort of 825 patients Andersen, Peter Forster; Ek, Jakob; Karstensen, Helena Gasdal; Bak, Mads; Gronborg, Sabine Weller; Hove, Hanne Buciek; Diness, Birgitte; Hjortshoj, Tina Duelund; Hammer, Trine Bjorg; Hoi-Hansen, Christina; Schonewolf-Greulich, Bitten; Bisgaard, Anne-Marie; Duno, Morten; Ostergaard, Elsebet Share Save
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