A new severe mutation in the SLC5A7 gene related to congenital myasthenic syndrome type 20 von Pardal-Fernández, J.M., Carrascosa-Romero, M.C., Álvarez, S., Medina-Monzón, M.C., Caamaño, M. Bengoa, de Cabo, C.

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Congenital Gingival Hyperplasia in a Neonate with Foetal Valproate Syndrome von Rodríguez-Vázquez, M., Carrascosa-Romero, M. C., Pardal-Fernández, J. M., Iniesta, I.

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True knot in an umbilical venous catheter von Pérez-Martínez, A., Vázquez-García, M.S., Goñi-Orayen, C., Carrascosa-Romero, M.C., Ruiz-Cano, R., Martínez-Gutiérrez, A.

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Neonatal viral meningitis. The importance of the polymerase chain reaction in their diagnosis von Marcilla-Vazquez, C, Martinez-Gutierrez, A, Carrascosa-Romero, M C, Baquero-Cano, M, Alfaro-Ponce, B

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Pena-Shokeir syndrome type I, associated to Klippel-Feil syndrome type II in the same family von Carrascosa-Romero, M C, Pardal-Fernández, J M, Sotoca-Fernández, J, Onsurbe, I, Tébar-Gil, R

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A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with marden-walker syndrome von Carrascosa-Romero, María Carmen, Suela, Javier, Pardal-Fernández, José Manuel, Bermejo-Sánchez, Eva, Vidal-Company, Alberto, MacDonald, Alexandra, Tébar-Gil, Roque, Martínez-Fernández, María Luisa, Martínez-Frías, María Luisa

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Value of electroencephalography in the early detection of neonatal leucinosis von Pardal-Fernandez, J M, Carrascosa-Romero, M C, Grande, A, Martinez-Gonzalez, M, Godes-Medrano, B

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Embryopathy due to valproic acid with severe malformations in the central nervous system von Pardal-Fernández, J M, Carrascosa-Romero, M C, Rodríguez-Vázquez, M, Marco-Giner, J, Martínez-Gutiérrez, A

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Peroxisomal diseases: an analysis of ferritin levels in Zellweger's cerebrohepatorenal syndrome von Carrascosa-Romero, M C, Vidal-Company, A, Gil-Pons, E, Perez-Pardo, A, Marco-Giner, J, Tebar-Gil, R

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Walker-Warburg syndrome in twins from a Gypsy family von Cabezas-Tapia, M E, Carrascosa-Romero, M C, García-Mialdea, O, Baquero-Cano, M, Tébar-Gil, R

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Congenital mydriasis as an initial sign of septo-optic dysplasia von Carrascosa-Romero, M C, Ruiz-Cano, R, Martínez-López, F, Alfaro-Ponce, B, Pérez-Pardo, A

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Neonatal convulsions caused by incontinentia pigmenti with left opercular dysgenesia von Carrascosa Romero, M C, Ruiz Cano, R, Medina Monzón, C, Perez García, L, Martínez Gutiérrez, A, Tebar Gil, R

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Abnormal Melanosomes: Ultrastructural Markers of Melanocytic Atypia von Ortega, V. Vicente, Díaz, F. Martínez, Romero, C. Carrascosa, Pacheco, G. Ortuño, Jordana, M. Canteras, Rubiales, F. Calderón

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Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis von Pardal-Fernández, José Manuel, Carrascosa-Romero, María Carmen, de Cabo-de la Vega, Carlos, Iniesta-López, Ivan, Gil-Pons, Esther, Martínez-Gutiérrez, Andrés

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Neurocristopathies: a high incidence of cerebral dysgenesis in patients with Hirschsprung's disease von Carrascosa-Romero, M C, Fernández-Córdoba, M S, Gonzálvez-Piñera, J, Gutiérrez-Junquera, C, Pardal-Fernández, J M

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Intrauterine spinal cord injury resulting from a transverse lie. Magnetic resonance imaging von Carrascosa-Romero, M C, Ruiz-Cano, R, Abad-Ortiz, L, Calatayud-Pérez, V, Martínez-Gutiérrez, A, Tebar-Gil, R

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Midriasis congénita como signo inicial de displasia septo-óptica von Carrascosa-Romero, M.C, Ruiz-Cano, R, Martínez-López, F, Alfaro-Ponce, B, Pérez-Pardo, A

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Síndrome de Walker-Warburg en gemelos de etnia gitana von Cabezas Tapia, María Elena, Carrascosa Romero, Mª Carmen, García Mialdea, Olga, Baquero Cano, María, Tébar Gil, Roque

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Secuencia de Pena-Shokeir tipo I, asociada a síndrome de Klippel-Feil tipo II en la misma familia von Carrascosa Romero, Mª Carmen, Pardal Fernández, José Manuel, Sotoca-Fernández, Jorge, Onsurbe Ramírez, Ignacio, Tébar Gil, Roque

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Embriopatía por ácido valproico con malformaciones graves del sistema nervioso central von Pardal Fernández, José Manuel, Carrascosa Romero, Mª Carmen, Rodríguez Vázquez, María, Marco Giner, Joaquín, Martínez Gutiérrez, Andrés

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