Results
|
1.
|
|
|
2.
|
|
|
3.
|
|
|
4.
|
|
|
5.
|
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia. [electronic resource] by
- Gallego, Diana
- Leal, Fátima
- Gámez, Alejandra
- Castro, Margarita
- Navarrete, Rosa
- Sanchez-Lijarcio, Obdulia
- Vitoria, Isidro
- Bueno-Delgado, María
- Belanger-Quintana, Amaya
- Morais, Ana
- Pedrón-Giner, Consuelo
- García, Inmaculada
- Campistol, Jaume
- Artuch, Rafael
- Alcaide, Carlos
- Cornejo, Veronica
- Gil, David
- Yahyaoui, Raquel
- Desviat, Lourdes R
- Ugarte, Magdalena
- Martínez, Aurora
- Pérez, Belén
Producer: 20211105
In:
Human mutation vol. 41
Availability: No items available.
|
|
6.
|
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program. [electronic resource] by
- Navarrete, Rosa
- Leal, Fátima
- Vega, Ana I
- Morais-López, Ana
- Garcia-Silva, María Teresa
- Martín-Hernández, Elena
- Quijada-Fraile, Pilar
- Bergua, Ana
- Vives, Inmaculada
- García-Jiménez, Inmaculada
- Yahyaoui, Raquel
- Pedrón-Giner, Consuelo
- Belanger-Quintana, Amaya
- Stanescu, Sinziana
- Cañedo, Elvira
- García-Campos, Oscar
- Bueno-Delgado, María
- Delgado-Pecellín, Carmen
- Vitoria, Isidro
- Rausell, María Dolores
- Balmaseda, Elena
- Couce, Mari Luz
- Desviat, Lourdes R
- Merinero, Begoña
- Rodríguez-Pombo, Pilar
- Ugarte, Magdalena
- Pérez-Cerdá, Celia
- Pérez, Belén
Producer: 20200615
In:
European journal of human genetics : EJHG vol. 27
Availability: No items available.
|
|
7.
|
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases. [electronic resource] by
- Martín-Hernández, Elena
- Aldámiz-Echevarría, Luis
- Castejón-Ponce, Esperanza
- Pedrón-Giner, Consuelo
- Couce, María Luz
- Serrano-Nieto, Juliana
- Pintos-Morell, Guillem
- Bélanger-Quintana, Amaya
- Martínez-Pardo, Mercedes
- García-Silva, María Teresa
- Quijada-Fraile, Pilar
- Vitoria-Miñana, Isidro
- Dalmau, Jaime
- Lama-More, Rosa A
- Bueno-Delgado, María Amor
- Del Toro-Riera, Mirella
- García-Jiménez, Inmaculada
- Sierra-Córcoles, Concepción
- Ruiz-Pons, Mónica
- Peña-Quintana, Luis J
- Vives-Piñera, Inmaculada
- Moráis, Ana
- Balmaseda-Serrano, Elena
- Meavilla, Silvia
- Sanjurjo-Crespo, Pablo
- Pérez-Cerdá, Celia
Producer: 20151030
In:
Orphanet journal of rare diseases vol. 9
Availability: No items available.
|
|
8.
|
Newborn screening for homocystinurias: Recent recommendations versus current practice. [electronic resource] by
- Keller, Rebecca
- Chrastina, Petr
- Pavlíková, Markéta
- Gouveia, Sofía
- Ribes, Antonia
- Kölker, Stefan
- Blom, Henk J
- Baumgartner, Matthias R
- Bártl, Josef
- Dionisi-Vici, Carlo
- Gleich, Florian
- Morris, Andrew A
- Kožich, Viktor
- Huemer, Martina
- Barić, Ivo
- Ben-Omran, Tawfeq
- Blasco-Alonso, Javier
- Bueno Delgado, Maria A
- Carducci, Claudia
- Cassanello, Michela
- Cerone, Roberto
- Couce, Maria Luz
- Crushell, Ellen
- Delgado Pecellin, Carmen
- Dulin, Elena
- Espada, Mercedes
- Ferino, Giulio
- Fingerhut, Ralph
- Garcia Jimenez, Immaculada
- Gonzalez Gallego, Immaculada
- González-Irazabal, Yolanda
- Gramer, Gwendolyn
- Juan Fita, Maria Jesus
- Karg, Eszter
- Klein, Jeanette
- Konstantopoulou, Vassiliki
- la Marca, Giancarlo
- Leão Teles, Elisa
- Leuzzi, Vincenzo
- Lilliu, Franco
- Lopez, Rosa Maria
- Lund, Allan M
- Mayne, Philip
- Meavilla, Silvia
- Moat, Stuart J
- Okun, Jürgen G
- Pasquini, Elisabeta
- Pedron-Giner, Consuélo Carmen
- Racz, Gabor Zoltan
- Ruiz Gomez, Maria Angeles
- Vilarinho, Laura
- Yahyaoui, Raquel
- Zerjav Tansek, Moja
- Zetterström, Rolf H
- Zeyda, Maximilian
Producer: 20200401
In:
Journal of inherited metabolic disease vol. 42
Availability: No items available.
|