Prenatal Clinical Findings in RASA1 -Related Capillary Malformation-Arteriovenous Malformation Syndrome von Coccia, Emanuele, Valeri, Lara, Zuntini, Roberta, Caraffi, Stefano Giuseppe, Peluso, Francesca, Pagliai, Luca, Vezzani, Antonietta, Pietrangiolillo, Zaira, Leo, Francesco, Melli, Nives, Fiorini, Valentina, Greco, Andrea, Lepri, Francesca Romana, Pisaneschi, Elisa, Marozza, Annabella, Carli, Diana, Mussa, Alessandro, Radio, Francesca Clementina, Conti, Beatrice, Iascone, Maria, Gargano, Giancarlo, Novelli, Antonio, Tartaglia, Marco, Zuffardi, Orsetta, Bedeschi, Maria Francesca, Garavelli, Livia

Volltext

Prenatal Clinical Findings in IRASA1/I-Related Capillary Malformation-Arteriovenous Malformation Syndrome von Coccia, Emanuele, Valeri, Lara, Zuntini, Roberta, Caraffi, Stefano Giuseppe, Peluso, Francesca, Pagliai, Luca, Vezzani, Antonietta, Pietrangiolillo, Zaira, Leo, Francesco, Melli, Nives, Fiorini, Valentina, Greco, Andrea, Lepri, Francesca Romana, Pisaneschi, Elisa, Marozza, Annabella, Carli, Diana, Mussa, Alessandro, Radio, Francesca Clementina, Conti, Beatrice, Iascone, Maria, Gargano, Giancarlo, Novelli, Antonio, Tartaglia, Marco, Zuffardi, Orsetta, Bedeschi, Maria Francesca, Garavelli, Livia

Volltext

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples von Peluso, Francesca, Caraffi, Stefano Giuseppe, Zuntini, Roberta, Trimarchi, Gabriele, Ivanovski, Ivan, Valeri, Lara, Barbieri, Veronica, Marinelli, Maria, Pancaldi, Alessia, Melli, Nives, Cesario, Claudia, Agolini, Emanuele, Cellini, Elena, Radio, Francesca Clementina, Crisafi, Antonella, Napoli, Manuela, Guerrini, Renzo, Tartaglia, Marco, Novelli, Antonio, Gargano, Giancarlo, Zuffardi, Orsetta, Garavelli, Livia

Volltext

Simpson–Golabi–Behmel syndrome type 1 in a 27‐week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia von Garavelli, Livia, Gargano, Giancarlo, Simonte, Graziella, Rosato, Simonetta, Wischmeijer, Anita, Melli, Nives, Braibanti, Silvia, Gelmini, Chiara, Forzano, Francesca, Pietrobono, Roberta, Pomponi, Maria Grazia, Andreucci, Elena, Toutain, Annick, Superti‐Furga, Andrea, Neri, Giovanni

Volltext

Multiple sulfatase deficiency with neonatal manifestation von Garavelli, Livia, Santoro, Lucia, Iori, Alexandra, Gargano, Giancarlo, Braibanti, Silvia, Pedori, Simona, Melli, Nives, Frattini, Daniele, Zampini, Lucia, Galeazzi, Tiziana, Padella, Lucia, Pepe, Stefano, Wischmeijer, Anita, Rosato, Simonetta, Ivanovski, Ivan, Iughetti, Lorenzo, Gelmini, Chiara, Bernasconi, Sergio, Superti-Furga, Andrea, Ballabio, Andrea, Gabrielli, Orazio

Volltext

Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia von Garavelli, Livia, Gargano, Giancarlo, Simonte, Graziella, Rosato, Simonetta, Wischmeijer, Anita, Melli, Nives, Braibanti, Silvia, Gelmini, Chiara, Forzano, Francesca, Pietrobono, Roberta, Pomponi, Maria Grazia, Andreucci, Elena, Toutain, Annick, Superti-Furga, Andrea, Neri, Giovanni

Volltext