Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects by Mingqin Wang, Patrizia de Marco, Valeria Capra, Zoha Kibar

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Congenital Nasal Bones Agenesis: Report of a Rare Malformation by Monica Russo, Chiara Ferrecchi, Silvia Rebella, Valeria Capra, Franco Ameli, Mattia Pacetti, Maria Francesca Di Feo, Pierangela De Biasio, Cesare Arioni

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Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt‐Neu‐Cooper Neurodevelopmental Syndrome by Alice Dainelli, Mohammad Sadegh Shams Nosrati, Ferruccio Romano, Fabiana Vercellino, Maria Margherita Mancardi, Annalaura Torella, Vincenzo Nigro, Valeria Capra, Federico Zara, Marcello Scala

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Abdominal rhabdoid tumor presenting with symptomatic spinal epidural compression in a newborn. A case report by Shana Montalto, Shana Montalto, Michela Di Filippo, Valeria Capra, Carla Manzitti, Angela Rita Sementa, Patrizia De Marco, Marzia Ognibene, Fiammetta Sertorio, Stefania Sorrentino

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Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review by Alice Dainelli, Michele Iacomino, Sara Rossato, Samuela Bugin, Monica Traverso, Mariasavina Severino, Stefano Gustincich, Valeria Capra, Marco Di Duca, Federico Zara, Marcello Scala, Pasquale Striano

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Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in <i>KCNA1</i> Impairing the Voltage Sensitivity of Kv1.1 Channel by Paola Imbrici, Andrea Accogli, Rikard Blunck, Concetta Altamura, Michele Iacomino, Maria Cristina D’Adamo, Anna Allegri, Marina Pedemonte, Noemi Brolatti, Stella Vari, Matteo Cataldi, Valeria Capra, Stefano Gustincich, Federico Zara, Jean-Francois Desaphy, Chiara Fiorillo

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Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia by Ferruccio Romano, Elisabetta Amadori, Elisabetta Amadori, Francesca Madia, Mariasavina Severino, Valeria Capra, Renata Rizzo, Rita Barone, Beatrice Corradi, Beatrice Corradi, Luca Maragliano, Luca Maragliano, Mohammad Sadegh Shams Nosrati, Antonio Falace, Pasquale Striano, Pasquale Striano, Federico Zara, Federico Zara, Marcello Scala, Marcello Scala

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Vein of Galen aneurysmal malformation in newborns: a retrospective study to describe a paradigm of treatment and identify risk factors of adverse outcome in a referral center by Silvia Buratti, Silvia Buratti, Marisa Mallamaci, Giulia Tuo, Mariasavina Severino, Mariasavina Severino, Domenico Tortora, Costanza Parodi, Andrea Rossi, Andrea Rossi, Francesco Pasetti, Lucio Castellan, Valeria Capra, Ferruccio Romano, Patrizia De Marco, Marco Pavanello, Gianluca Piatelli, Dario Paladini, Maria Grazia Calevo, Andrea Moscatelli, Andrea Moscatelli

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PDCD10 gene mutations in multiple cerebral cavernous malformations. by Maria Sole Cigoli, Francesca Avemaria, Stefano De Benedetti, Giovanni P Gesu, Lucio Giordano Accorsi, Stefano Parmigiani, Maria Franca Corona, Valeria Capra, Andrea Mosca, Simona Giovannini, Francesca Notturno, Fausta Ciccocioppo, Lilia Volpi, Margherita Estienne, Giuseppe De Michele, Antonella Antenora, Leda Bilo, Antonietta Tavoni, Nelia Zamponi, Enrico Alfei, Giovanni Baranello, Daria Riva, Silvana Penco

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Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation by Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R. Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Huijie Zhao, Chiara Fiorillo, Marina Pedemonte, Maria C. Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill A. Rosenfeld, Seema R. Lalani, Tiana M. Scott, Daryl Scott, Mahshid S. Azamian, Raymond Louie, Hannah W. Moore, Neena L. Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin J. Larsen, Suzanne Specht, Kylie J. Walters, Hee-Jung Choi, Murim Choi, Marco Tartaglia, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J. Westlake

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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies by Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger

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