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	1.	Genetic Diagnosis of Rare Diseases: Past and Present. [electronic resource] by Ramos-Fuentes, Feliciano González-Meneses, Antonio Ars, Elisabet Hernández-Jaras, Julio Producer: 20201207 In: Advances in therapy vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Heterogeneity of a Constitutional Complex Chromosomal Rearrangement in 2q. [electronic resource] by Del Rey, Javier Santos, Mónica González-Meneses, Antonio Milà, Montserrat Fuster, Carme Producer: 20170119 In: Cytogenetic and genome research vol. 148 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report. [electronic resource] by Bravo-Gil, Nereida Marcos, Irene González-Meneses, Antonio Antiñolo, Guillermo Borrego, Salud Producer: 20190325 In: Medicine vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region. [electronic resource] by Fernández, Raquel M Núñez-Torres, Rocío González-Meneses, Antonio Antiñolo, Guillermo Borrego, Salud Producer: 20101101 In: BMC medical genetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Infantile systemic hyalinosis: a clinicopathological study. [electronic resource] by Criado, Germán Rodríguez González-Meneses, Antonio Cañadas, Manuela Rafel, Enrique Yanes, Francisco De Terreros, Ignacio Gómez Producer: 20050318 In: American journal of medical genetics. Part A vol. 129A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13. [electronic resource] by Sánchez, Javier Peciña, Ana Alonso-Luengo, Olga González-Meneses, Antonio Vázquez, Rocío Antiñolo, Guillermo Borrego, Salud Producer: 20141107 In: Case reports in genetics vol. 2014 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus. [electronic resource] by González-Gutiérrez-Solana, Luis Guillén-Navarro, Encarnación Del Toro, Mireia Dalmau, Jaime González-Meneses, Antonio Couce, María L Producer: 20180727 In: Medicine vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations. [electronic resource] by Fernández, Raquel M Sánchez, Javier García-Díaz, Lutgardo Peláez-Nora, Yolanda González-Meneses, Antonio Antiñolo, Guillermo Borrego, Salud Producer: 20170104 In: American journal of medical genetics. Part A vol. 170A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly. [electronic resource] by Debeer, Philippe Devriendt, Koen De Smet, Luc Deravel, Thomy Gonzalez-Meneses, Antonio Grzeschik, Karl-Heinz Fryns, Jean-Pierre Producer: 20110714 In: Journal of children's orthopaedics vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Contributions of PHOX2B in the pathogenesis of Hirschsprung disease. [electronic resource] by Fernández, Raquel María Mathieu, Yves Luzón-Toro, Berta Núñez-Torres, Rocío González-Meneses, Antonio Antiñolo, Guillermo Amiel, Jeanne Borrego, Salud Producer: 20130802 In: PloS one vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	[Combined methylmalonic acidemia and homocystinuria; a case report]. [electronic resource] by Jiménez Varo, Ignacio Bueno Delgado, María Dios Fuentes, Elena Delgado Pecellin, Carmen González Meneses, Antonio Soto Moreno, Alfonso Venegas Moreno, Eva Producer: 20161213 In: Nutricion hospitalaria vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Mutation prevalence of cerebral cavernous malformation genes in Spanish patients. [electronic resource] by Mondéjar, Rufino Solano, Francisca Rubio, Rocío Delgado, Mercedes Pérez-Sempere, Angel González-Meneses, Antonio Vendrell, Teresa Izquierdo, Guillermo Martinez-Mir, Amalia Lucas, Miguel Producer: 20141111 In: PloS one vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome. [electronic resource] by Rodríguez-Criado, Germán Magano, Luis Segovia, Mabel Gurrieri, Fiorella Neri, Giovanni González-Meneses, Antonio Gómez de Terreros, Ignacio Valdéz, Rita Gracia, Ricardo Lapunzina, Pablo Producer: 20080227 In: American journal of medical genetics. Part A vol. 138A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients]. [electronic resource] by Carcavilla, Atilano García-Miñaúr, Sixto Pérez-Aytés, Antonio Vendrell, Teresa Pinto, Isabel Guillén-Navarro, Encarna González-Meneses, Antonio Aoki, Yoko Grinberg, Daniel Ezquieta, Begoña Producer: 20150910 In: Medicina clinica vol. 144 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain. [electronic resource] by Pajares, Sonia Alcalde, Carlos Couce, Ma Luz Del Toro, Mireia González-Meneses, Antonio Guillén, Encarna Pineda, Mercè Pintos, Guillem Gort, Laura Coll, Ma José Producer: 20120918 In: Molecular genetics and metabolism vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria. [electronic resource] by Martínez-Glez, Víctor Romanelli, Valeria Mori, María A Gracia, Ricardo Segovia, Mabel González-Meneses, Antonio López-Gutierrez, Juan C Gean, Esther Martorell, Loreto Lapunzina, Pablo Producer: 20110315 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor. [electronic resource] by Tenorio, Jair Nevado, Julián González-Meneses, Antonio Arias, Pedro Dapía, Irene Venegas-Vega, Carlos A Calvente, María Hernández, Alicia Landera, Leandro Ramos, Sergio Cigudosa, Juan Cruz Pérez-Jurado, Luis A Lapunzina, Pablo Producer: 20210204 In: Clinical genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. [electronic resource] by Gripp, Karen W Lin, Angela E Stabley, Deborah L Nicholson, Linda Scott, Charles I Doyle, Daniel Aoki, Yoko Matsubara, Yoichi Zackai, Elaine H Lapunzina, Pablo Gonzalez-Meneses, Antonio Holbrook, Jennifer Agresta, Cynthia A Gonzalez, Iris L Sol-Church, Katia Producer: 20060307 In: American journal of medical genetics. Part A vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Clinical course of sly syndrome (mucopolysaccharidosis type VII). [electronic resource] by Montaño, Adriana M Lock-Hock, Ngu Steiner, Robert D Graham, Brett H Szlago, Marina Greenstein, Robert Pineda, Mercedes Gonzalez-Meneses, Antonio Çoker, Mahmut Bartholomew, Dennis Sands, Mark S Wang, Raymond Giugliani, Roberto Macaya, Alfons Pastores, Gregory Ketko, Anastasia K Ezgü, Fatih Tanaka, Akemi Arash, Laila Beck, Michael Falk, Rena E Bhattacharya, Kaustuv Franco, José White, Klane K Mitchell, Grant A Cimbalistiene, Loreta Holtz, Max Sly, William S Producer: 20171031 In: Journal of medical genetics vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder. [electronic resource] by Cuvertino, Sara Stuart, Helen M Chandler, Kate E Roberts, Neil A Armstrong, Ruth Bernardini, Laura Bhaskar, Sanjeev Callewaert, Bert Clayton-Smith, Jill Davalillo, Cristina Hernando Deshpande, Charu Devriendt, Koenraad Digilio, Maria C Dixit, Abhijit Edwards, Matthew Friedman, Jan M Gonzalez-Meneses, Antonio Joss, Shelagh Kerr, Bronwyn Lampe, Anne Katrin Langlois, Sylvie Lennon, Rachel Loget, Philippe Ma, David Y T McGowan, Ruth Des Medt, Maryse O'Sullivan, James Odent, Sylvie Parker, Michael J Pebrel-Richard, Céline Petit, Florence Stark, Zornitza Stockler-Ipsiroglu, Sylvia Tinschert, Sigrid Vasudevan, Pradeep Villa, Olaya White, Susan M Zahir, Farah R Woolf, Adrian S Banka, Siddharth Producer: 20180102 In: American journal of human genetics vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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