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	1.	Renal involvement in Down syndrome. [electronic resource] by Málaga, Serafín Pardo, Rafael Málaga, Ignacio Orejas, Gonzalo Fernández-Toral, Joaquín Producer: 20050706 In: Pediatric nephrology (Berlin, Germany) vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	[CHARGE syndrome]. [electronic resource] by Lobete Prieto, Carlos Javier Llano Rivas, Isabel Fernández Toral, Joaquín Madero Barrajón, Pilar Producer: 20100630 In: Archivos argentinos de pediatria vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude syndrome. [electronic resource] by Miñones-Suárez, Lorena Mas-Vidal, Alberto Fernandez-Toral, Joaquin Llano-Rivas, Isabel González-García, Manuel Producer: 20130909 In: Pediatric dermatology vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	[Prevalence and secular trend of Down syndrome in Asturias (Spain), 1990-2004]. [electronic resource] by Mosquera Tenreiro, Carmen Ariza Hevia, Fernando Rodríguez Dehli, Cristina Fernández Toral, Joaquín García López, Enrique Riaño Galán, Isolina Producer: 20090813 In: Medicina clinica vol. 132 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome. [electronic resource] by Martínez-Fernández, María Luisa Bermejo-Sánchez, Eva Fernández, Belén MacDonald, Alexandra Fernández-Toral, Joaquín Martínez-Frías, María Luisa Producer: 20140911 In: American journal of medical genetics. Part A vol. 164A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13. [electronic resource] by Mendioroz, Jacobo Fernández-Toral, Joaquín Suárez, Etelvina López-Grondona, Fermina Kjaer, Klaus W Bermejo, Eva Martínez-Frías, María Luisa Producer: 20050627 In: American journal of medical genetics. Part A vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date. [electronic resource] by Martínez-Fernández, María Luisa Fernández-Toral, Joaquin Llano-Rivas, Isabel Bermejo-Sánchez, Eva MacDonald, Alexandra Martínez-Frías, María Luisa Producer: 20160519 In: American journal of medical genetics. Part A vol. 167A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Neonatal lupus erythematosus mimicking extensive capillary malformation. [electronic resource] by Vílchez-Márquez, Francisco Martín-Fuentes, Adriana Conejero, Raquel Hernández-Martín, Angela Colmenero, Isabel Nieme, Constanza Fernández-Toral, Joaquín Torrelo, Antonio Producer: 20140227 In: Pediatric dermatology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report. [electronic resource] by Fernández-Toral, Joaquín Rodríguez, Laura Plasencia, Ana Martínez-Frías, María Luisa Ewers, Elisabeth Hamid, Ahmed B Ziegler, Monika Liehr, Thomas Producer: 20110714 In: Journal of medical case reports vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Neonatal Lupus Erythematosus Mimicking Extensive Capillary Malformation. [electronic resource] by Vílchez-Márquez, Francisco Martín-Fuentes, Adriana Conejero, Raquel Hernández-Martín, Angela Colmenero, Isabel Nieme, Constanza Fernández-Toral, Joaquín Torrelo, Antonio Publication details: Pediatric dermatology Jan 2012 In: Pediatric dermatology Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	[Prevalence of neural tube defects in Asturias (Spain): impact of prenatal diagnosis]. [electronic resource] by García López, Enrique Rodríguez Dehli, Cristina Ariza Hevia, Fernando Rodríguez Fernández, Adela Fernández Toral, Joaquín Riaño Galán, Isolina Mosquera Tenreiro, Carmen Producer: 20100623 In: Gaceta sanitaria vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion. [electronic resource] by Rodríguez, Laura Bhatt, Samarth S García-Castro, Mónica Plasencia, Ana Fernández-Toral, Joaquín Abarca, Elena de Bello Cioffi, Marcelo Liehr, Thomas Producer: 20140311 In: Gene vol. 535 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. [electronic resource] by Bárcena, Clea Quesada, Víctor De Sandre-Giovannoli, Annachiara Puente, Diana A Fernández-Toral, Joaquín Sigaudy, Sabine Baban, Anwar Lévy, Nicolas Velasco, Gloria López-Otín, Carlos Producer: 20140804 In: BMC medical genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling. [electronic resource] by Gandía, Marta Fernández-Toral, Joaquín Solanellas, Juan Domínguez-Ruiz, María Gómez-Rosas, Elena Del Castillo, Francisco J Villamar, Manuela Moreno-Pelayo, Miguel A Del Castillo, Ignacio Producer: 20160413 In: Pediatric research vol. 78 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	[Prevalence and secular trend of congenital defects in Asturias, Spain. The need for clinical-epidemiological surveillance]. [electronic resource] by Mosquera Tenreiro, Carmen Riaño Galán, Isolina Rodríguez Dehli, Cristina Fernández Toral, Joaquín Moro Bayón, Carmen Rodríguez Fernández, Adela Suárez Menéndez, M Etelvina García López, Enrique Ariza Hevia, Fernando Producer: 20100624 In: Gaceta sanitaria vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene. [electronic resource] by Martín-Hernández, Elena García-Silva, María Teresa Quijada-Fraile, Pilar Rodríguez-García, María Elena Rivera, Henry Hernández-Laín, Aurelio Coca-Robinot, David Fernández-Toral, Joaquín Arenas, Joaquín Martín, Miguel A Martínez-Azorín, Francisco Producer: 20190521 In: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes. [electronic resource] by Gómez-Carballa, Alberto Cerezo, María Balboa, Emilia Heredia, Claudia Castro-Feijóo, Lidia Rica, Itxaso Barreiro, Jesús Eirís, Jesús Cabanas, Paloma Martínez-Soto, Isabel Fernández-Toral, Joaquín Castro-Gago, Manuel Pombo, Manuel Carracedo, Ángel Barros, Francisco Salas, Antonio Producer: 20110816 In: PloS one vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)