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
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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
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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
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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
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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
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Save An electronic review of clinical outcomes after return of actionable genetic research results from a health system research biobank
Cocchella, Giorgio; Phung, Lillian; Wood, Elisabeth; Egleston, Brian; Hoffman-Andrews, Lily; Brown, Sarah; Ofidis, Demetrios; Mim, Rajia; Griffin, Hannah; Fetzer, Dominique; Owens, Anjali; Domchek, Susan; Pyeritz, Reed; Katona, Bryson W.; Kallish, Staci; Sirugo, Giorgio; Weaver, JoEllen; Nathanson, Katherine L.; Rader, Daniel J.; Bradbury, Angela R.
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Save French recommendations on multi-gene panel testing in renal cell carcinoma
Giraud, Sophie; Berthet, Pascaline; Abadie, Caroline; Andrieu, Nadine; Benusiglio, Patrick R.; Bonadona, Valerie; Caron, Olivier; Corsini, Carole; Coupier, Isabelle; Crivelli, Louise; Delnatte, Capucine; Devulder, Pierre; De Pauw, Antoine; Dussart, Sophie; Gimenez-Roqueplo, Anne-Paule; Lejeune-Dumoulin, Sophie; Moretta, Jessica; Muller, Marie; Tinat, Julie; Richard, Stephane; Nogues, Catherine; Burnichon, Nelly
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Save Persistent lymphopenia in a Japanese boy with neuronal ceroid lipofuscinosis type 3
Kajiwara, Kenta; Liang, Qiaowei; Uchiyama, Yuri; Chong, Pin Fee; Ichimiya, Yuko; Monji, Norihisa; Shimokawa, Sakurako; Sonoda, Motoshi; Watanabe, Eriko; Sakata, Ayumi; Sonoda, Yuri; Akamine, Satoshi; Ishimura, Masataka; Murakami, Yusuke; Kunisaki, Yuya; Sonoda, Koh-Hei; Matsumoto, Naomichi; Sakai, Yasunari; Ohga, Shouichi
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Save Rare features in Feingold syndrome type 1
Ferroul, Fanny; Snanoudj, Sarah; Leterme, Gaelle; Mezouaghi, Kheira; Kieffer-Traversier, Marie; Celse, Tristan; Dospeux, Jessica; Huby, Thomas; Marzin, Pauline; Morel, Godelieve; Payet, Frederique; Remy, Mathilde; Sennsfelder, Laetitia; Spondenkiewicz, Marta; Roy-Doray, Berenice; Amiel, Jeanne; Pingault, Veronique; Alessandri, Jean-Luc
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