Results
|
1.
|
|
|
2.
|
|
|
3.
|
|
|
4.
|
|
|
5.
|
|
|
6.
|
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations. [electronic resource] by
- Casas-Alba, Dídac
- Martínez-Monseny, Antonio
- Pino-Ramírez, Rosa M
- Alsina, Laia
- Castejón, Esperanza
- Navarro-Vilarrubí, Sergi
- Pérez-Dueñas, Belén
- Serrano, Mercedes
- Palau, Francesc
- García-Alix, Alfredo
Producer: 20191007
In:
Human mutation vol. 39
Availability: No items available.
|
|
7.
|
Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency. [electronic resource] by
- Tondo, Mireia
- Calpena, Eduardo
- Arriola, Gema
- Sanz, Paloma
- Martorell, Loreto
- Ormazabal, Aida
- Castejon, Esperanza
- Palacin, Manuel
- Ugarte, Magdalena
- Espinos, Carmen
- Perez, Belen
- Perez-Dueñas, Belen
- Pérez-Cerda, Celia
- Artuch, Rafael
Producer: 20140508
In:
Molecular genetics and metabolism vol. 110
Availability: No items available.
|
|
8.
|
Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency. [electronic resource] by
- Yubero, Delia
- O'Callaghan, Mar
- Montero, Raquel
- Ormazabal, Aida
- Armstrong, Judith
- Espinos, Carmina
- Rodríguez, Maria A
- Jou, Cristina
- Castejon, Esperanza
- Aracil, Maria A
- Cascajo, Maria V
- Gavilan, Angela
- Briones, Paz
- Jimenez-Mallebrera, Cecilia
- Pineda, Mercedes
- Navas, Plácido
- Artuch, Rafael
Producer: 20151013
In:
BMC pediatrics vol. 14
Availability: No items available.
|
|
9.
|
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. [electronic resource] by
- García-Cazorla, Angels
- Oyarzabal, Alfonso
- Fort, Joana
- Robles, Concepción
- Castejón, Esperanza
- Ruiz-Sala, Pedro
- Bodoy, Susanna
- Merinero, Begoña
- Lopez-Sala, Anna
- Dopazo, Joaquín
- Nunes, Virginia
- Ugarte, Magdalena
- Artuch, Rafael
- Palacín, Manuel
- Rodríguez-Pombo, Pilar
- Alcaide, Patricia
- Navarrete, Rosa
- Sanz, Paloma
- Font-Llitjós, Mariona
- Vilaseca, Ma Antonia
- Ormaizabal, Aida
- Pristoupilova, Anna
- Agulló, Sergi Beltran
Producer: 20150129
In:
Human mutation vol. 35
Availability: No items available.
|