Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease von Raggio, Víctor, Dell'Oca, Nicolas, Simoes, Camila, Tapié, Alejandra, Medici, Conrado, Costa, Gonzalo, Rodriguez, Soledad, Greif, Gonzalo, Garrone, Estefania, Rovella, María Laura, Gonzalez, Virgina, Halty, Margarita, González, Gabriel, Shin, Jong-Yeon, Shin, Sang-Yoon, Kim, Changhoon, Seo, Jeong-Sun, Graña, Martin, Naya, Hugo, Spangenberg, Lucia

Volltext

Locked-In Syndrome in Three Children With Guillain-Barré Syndrome von Medici, Conrado, MD, Gonzalez, Gabriel, MD, Cerisola, Alfredo, MD, Scavone, Cristina, MD

Volltext

Disturbed sensory perception of changes in thermoalgesic stimuli in patients with small fiber neuropathies von Medici, Conrado, Barraza, Gonzalo, Castillo, Carlos D., Morales, Merche, Schestatsky, Pedro, Casanova-Mollà, Jordi, Valls-Sole, Josep

Volltext

Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings von Medici, Conrado, Varacchi, Claudio, Gonzalez, Gabriel, Lemes, Aida, Cerisola, Alfredo, Pedemonte, Virginia, Blau, Nenad

Volltext

Response von Medici, Conrado, Gonzalez, Gabriel, Cerisola, Alfredo, Scavone, Cristina

Volltext

Response von Medici, Conrado, MD, Gonzalez, Gabriel, MD, Cerisola, Alfredo, MD, Scavone, Cristina, MD

Volltext

Neuropatía oftalmoplejica dolorosa recurrente (migraña oftalmoplejica): Caso clínico von Baltar Yanes, Federico, Medici, Conrado, Turcatti, Emilio, González, Gabriel

Volltext

Neurofibromatosis segmentaria: una entidad subdiagnosticada von Rosas, Melania, Cerisola, Alfredo, Martínez, Fernando, Gontade, Carolina, Medici, Conrado, González, Gabriel

Volltext

Additional file 2 of Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease von Raggio, Víctor, Dell’Oca, Nicolas, Simoes, Camila, Tapié, Alejandra, Medici, Conrado, Costa, Gonzalo, Rodriguez, Soledad, Greif, Gonzalo, Garrone, Estefania, Rovella, María Laura, Virgina Gonzalez, Halty, Margarita, González, Gabriel, Jong-Yeon Shin, Sang-Yoon Shin, Changhoon Kim, Jeong-Sun Seo, Graña, Martin, Naya, Hugo, Spangenberg, Lucia

Volltext bestellen