Lowe syndrome von Loi, Mario

Volltext

Reflex periodic spasms induced by eating von Labate, Angelo, Colosimo, Eleonora, Gambardella, Antonio, Leggio, Ugo, Ambrosio, Roberta, Loi, Mario, Quattrone, Aldo

Volltext

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome von Cau, Milena, Addis, Maria, Congiu, Rita, Meloni, Cristiana, Cao, Antonio, Santaniello, Simona, Loi, Mario, Emma, Francesco, Zuffardi, Orsetta, Ciccone, Roberto, Sole, Gabriella, Melis, Maria Antonietta

Volltext

Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? von Fiorio, Mirta, Gambarin, Mattia, Valente, Enza Maria, Liberini, Paolo, Loi, Mario, Cossu, Giovanni, Moretto, Giuseppe, Bhatia, Kailash P., Defazio, Giovanni, Aglioti, Salvatore M., Fiaschi, Antonio, Tinazzi, Michele

Volltext

Ring 20 syndrome mosaicism and epilepsy: a case with duplication of two BAC clones in 20q11.21-q11.22 defined by genome array-CGH von Cabras, Valentina, Erriu, Matteo, Loi, Mario, Milia, Angela, Montaldo, Caterina, Nucaro, Anna Lisa

Volltext

OCRL mutation analysis in Italian patients with Lowe syndrome von Addis, Maria, Loi, Mario, Lepiani, Carmen, Cau, Milena, Melis, Maria Antonietta

Volltext

C329X in KRIT1 is a founder mutation among CCM patients in Sardinia von Cau, Milena, Loi, Mario, Melis, Maurizio, Congiu, Rita, Loi, Alberto, Meloni, Cristiana, Serrenti, Marianna, Addis, Maria, Melis, Maria Antonietta

Volltext

Phenotypic variability of DYT1-PTD: Does the clinical spectrum include psychogenic dystonia? von Bentivoglio, Anna Rita, Loi, Mario, Valente, Enza M., Ialongo, Tamara, Tonali, Pietro, Albanese, Alberto

Volltext

Defective temporal processing of sensory stimuli in DYTI mutation carriers : a new endophenotype of dystonia? von FIORIO, Mirta, GAMBARIN, Mattia, FIASCHI, Antonio, TINAZZI, Michele, VALENTE, Enza Maria, LIBERINI, Paolo, LOI, Mario, COSSU, Giovanni, MORETTO, Giuseppe, BHATIA, Kailash P, DEFAZIO, Giovanni, AGLIOTI, Salvatore M

Volltext

Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31 → pter and monosomy 3p26.3 → pter in seven members von Nucaro, Anna Lisa, Meloni, Marta, Pisano, Tiziana, Melis, Paola, Rossi, Elena, Rossino, Rossano, Corona, Simona, Loi, Mario, Achena, Francesco, Zuffardi, Orsetta, Cianchetti, Carlo

Volltext

Familial translocation t(3; 10) (p26.3; p12.31) leading to trisomy 10p12.31 Delta RT pter and monosomy 3p26.3 Delta RT pter in seven members von Nucaro, Anna Lisa, Meloni, Marta, Pisano, Tiziana, Melis, Paola, Rossi, Elena, Rossino, Rossano, Corona, Simona, Loi, Mario, Achena, Francesco, Zuffardi, Orsetta, Cianchetti, Carlo

Volltext

OCRLMutation analysis in Italian patients with Lowe syndrome von Addis, Maria, Loi, Mario, Lepiani, Carmen, Cau, Milena, Melis, Maria Antonietta

Volltext

Phenotypic variability of DYTI-PTD: Does the clinical spectrum include psychogenic dystonia? von BENTIVOGLIO, Anna Rita, LOI, Mario, VALENTE, Enza M, IALONGO, Tamara, TONALI, Pietro, ALBANESE, Alberto

Volltext

Ring 20 syndrome mosaicism and epilepsy: a case with duplication of two BAC clones in 20q11.21-q11.22 defined by genome array-CGH von Cabras, Valentina, Erriu, Matteo, Loi, Mario, Milia, Angela, Montaldo, Caterina, Nucaro, Anna Lisa

Volltext

Outstanding Fill Factor in Inverted Organic Solar Cells with SnO2 by Atomic Layer Deposition von Di Mario, Lorenzo, Garcia Romero, David, Wang, Han, Tekelenburg, Eelco K., Meems, Sander, Zaharia, Teodor, Portale, Giuseppe, Loi, Maria A.

Volltext

Effects of the diphenyl ether additive in halogen-free processed non-fullerene acceptor organic solar cells von Di Mario, Lorenzo, Garcia Romero, David, Pieters, Meike J, Eller, Fabian, Zhu, Chenhui, Bongiovanni, Giovanni, Herzig, Eva M, Mura, Andrea, Loi, Maria A

Volltext

An All‐Solution‐Based Hybrid CMOS‐Like Quantum Dot/Carbon Nanotube Inverter von Shulga, Artem G., Derenskyi, Vladimir, Salazar‐Rios, Jorge Mario, Dirin, Dmitry N., Fritsch, Martin, Kovalenko, Maksym V., Scherf, Ullrich, Loi, Maria A.

Volltext

A carbazole-based self-assembled monolayer as the hole transport layer for efficient and stable Cs(0.25)FA(0.75)Sn(0.5)Pb(0.5)I(3) solar cells von Pitaro, Matteo, Alonso, Javier Sebastian, Di Mario, Lorenzo, Romero, David G., Tran, Karolina, Zaharia, Teodor, Johansson, Malin B., Johansson, Erik M. J., Loi, Maria Antonietta, Pitaro, M., Alonso, J. S., Di Mario, L., Romero, D. G., Tran, K., Zaharia, T., Loi, M. A.

Volltext

Charge Transport in High‐Mobility Field‐Effect Transistors Based on Inkjet Printed Random Networks of Polymer Wrapped Single‐Walled Carbon Nanotubes von Scuratti, Francesca, Salazar‐Rios, Jorge Mario, Luzio, Alessandro, Kowalski, Sebastian, Allard, Sybille, Jung, Stefan, Scherf, Ullrich, Loi, Maria Antonietta, Caironi, Mario

Volltext

Outstanding Fill Factor in Inverted Organic Solar Cells with SnO 2 by Atomic Layer Deposition von Di Mario, Lorenzo, Garcia Romero, David, Wang, Han, Tekelenburg, Eelco K, Meems, Sander, Zaharia, Teodor, Portale, Giuseppe, Loi, Maria A

Volltext