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Gasparini, Paolo
Research Output
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
, Gasparini Paolo Gruppo, Radio Francesca Clementina, Pang Kaifang, Ciolfi Andrea, Levy Michael A., Hernández-GarcÃa Andrés, Pedace Lucia, Pantaleoni Francesca, Liu Zhandong, de Boer Elke, Jackson Adam, Bruselles Alessandro, McConkey Haley, Stellacci Emilia, Lo Cicero Stefania, Motta Marialetizia, Carrozzo Rosalba, Dentici Maria Lisa, McWalter Kirsty, Desai Megha, Monaghan Kristin G., Telegrafi Aida, Philippe Christophe, Vitobello Antonio, Au Margaret, Grand Katheryn, Sanchez-Lara Pedro A., Baez Joanne, Lindstrom Kristin, Kulch Peggy, Sebastian Jessica, Madan-Khetarpal Suneeta, Roadhouse Chelsea, MacKenzie Jennifer J., Monteleone Berrin, Saunders Carol J., Jean Cuevas July K., Cross Laura, Zhou Dihong, Hartley Taila, Sawyer Sarah L., Monteiro FabÃola Paoli, Secches Tania Vertemati, Kok Fernando, Schultz-Rogers Laura E., Zanus Caterina, Faletra Flavio, Musante Luciana, Gasparini Paolo, Dallapiccola Bruno, Tartaglia Marco
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge
, Musante Luciana, Costa Paola, Zanus Caterina, Faletra Flavio, Murru Flora Maria, Bianco Anna Monica Rosaria, La Bianca Martina, Giulia Ragusa, Emmanouil Athanasakis, D'Adamo Adamo Pio, Carrozzi Marco, Gasparini Paolo, Musante Luciana
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition
, Musante Luciana, Faletra Flavio, Kolja Meier, Hoda Tomoum, Paria Najarzadeh Torbati, Edward Blair, Sally North, Jutta Gärtner, Susann Diegmann, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Ehsan Ghayoor Karimiani, David Murphy, Murru Flora Maria, Zanus Caterina, Magnolato Andrea, La Bianca Martina, Agnese Feresin, Girotto Giorgia, Gasparini Paolo, Costa Paola, Carrozzi Marco, Musante Luciana