Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer
Benito-Sanz, Sara, Royo, Jose Luis, Barroso, Eva, Paumard-Hernández, Beatriz, Barreda-Bonis, Ana C, Liu, Pengfei, Gracía, Ricardo, Lupski, James R, Campos-Barros, Ángel, Gómez-Skarmeta, José Luis, Heath, Karen Elise
Published in Journal of medical genetics (01.07.2012)
Published in Journal of medical genetics (01.07.2012)
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Journal Article
Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria
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
Published in American journal of medical genetics. Part A (01.12.2010)
Published in American journal of medical genetics. Part A (01.12.2010)
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Journal Article
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia
BARCA-TIERNO, Veronica, AZA-CARMONA, Miriam, SANTOS, Fernando, IGNACIO RODRIGUEZ, Jose, POZO, Jesus, ARGENTE, Jesus, KALAYDJIEVA, Luba, GRACIA, Ricardo, CAMPOS-BARROS, Angel, BENITO-SANZ, Sara, HEATH, Karen E, BARROSO, Eva, HEINE-SUNER, Damia, AZMANOV, Dimitar, ROSELL, Jordi, EZQUIETA, Begona, SENTCHORDI MONTANE, Lucia, VENDRELL, Teresa, CRUZ, Jaime
Published in European journal of human genetics : EJHG (01.12.2011)
Published in European journal of human genetics : EJHG (01.12.2011)
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Journal Article
Hyperinsulinism of Infancy: Novel ABCC8 and KCNJ11 Mutations and Evidence for Additional Locus Heterogeneity
Tornovsky, Sharona, Crane, Ana, Cosgrove, Karen E, Hussain, Khalid, Lavie, Judith, Heyman, Ma’ayan, Nesher, Yaron, Kuchinski, Na’ama, Ben-Shushan, Etti, Shatz, Olga, Nahari, Efrat, Potikha, Tamara, Zangen, David, Tenenbaum-Rakover, Yardena, de Vries, Liat, Argente, Jesús, Gracia, Ricardo, Landau, Heddy, Eliakim, Alon, Lindley, Keith, Dunne, Mark J, Aguilar-Bryan, Lydia, Glaser, Benjamin
Published in The journal of clinical endocrinology and metabolism (01.12.2004)
Published in The journal of clinical endocrinology and metabolism (01.12.2004)
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Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques
ROMANELLI, Valeria, MENESES, Heloisa Nm, ESTEBAN MARFIL, Victoria, GARCIA-MINAUR, Sixto, LAPUNZINA, Pablo, FERNANDEZ, Luis, MARTINEZ-GLEZ, Victor, GRACIA-BOUTHELIER, Ricardo, FRAGA, Mario F, GUILLEN, Encarna, NEVADO, Julian, GEAN, Esther, MARTORELL, Loreto
Published in European journal of human genetics : EJHG (01.04.2011)
Published in European journal of human genetics : EJHG (01.04.2011)
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Journal Article
CDKN1C (p57Kip2) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms
Romanelli, Valeria, Belinchón, Alberta, Benito-Sanz, Sara, Martínez-Glez, Victor, Gracia-Bouthelier, Ricardo, Heath, Karen E., Campos-Barros, Angel, García-Miñaur, Sixto, Fernandez, Luís, Meneses, Heloisa, López-Siguero, Juan Pedro, Guillén-Navarro, Encarna, Gómez-Puertas, Paulino, Wesselink, Jan-Jaap, Mercado, Graciela, Esteban-Marfil, Victoria, Palomo, Rebeca, Mena, Rocío, Sánchez, Aurora, del Campo, Miguel, Lapunzina, Pablo
Published in American journal of medical genetics. Part A (01.06.2010)
Published in American journal of medical genetics. Part A (01.06.2010)
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Journal Article
Plasma and urine metabolic fingerprinting of type 1 diabetic children
Balderas, Claudia, Rupérez, Francisco Javier, Ibañez, Elena, Señorans, Javier, Guerrero-Fernández, Julio, Casado, Isabel González, Gracia-Bouthelier, Ricardo, García, Antonia, Barbas, Coral
Published in Electrophoresis (01.10.2013)
Published in Electrophoresis (01.10.2013)
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Journal Article
Compound Heterozygous Mutations in the SRD5A2 Gene Exon 4 in a Male Pseudohermaphrodite Patient of Chinese Origin
Fernandez-Cancio, Monica, Nistal, Manuel, Gracia, Ricardo, Molina, M. Antonia, Tovar, Juan Antonio, Esteban, Cristina, Carrascosa, Antonio, Audi, Laura
Published in Journal of andrology (01.05.2004)
Published in Journal of andrology (01.05.2004)
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Journal Article
Load Scheduling Strategy to Improve Power Quality in Electric-Boosted Glass Furnaces
Garrido-Zafra, Joaquin, Moreno-Munoz, Antonio, Gil-de-Castro, Aurora R., Bellido-Outeirino, Francisco, Medina-Gracia, Ricardo, Gutierrez-Ballesteros, Elena
Published in IEEE transactions on industry applications (01.01.2021)
Published in IEEE transactions on industry applications (01.01.2021)
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Journal Article
A TDR wireless device for volumetric water content sensing
Villoro, Antonio, Latorre, Borja, Tormo, Jaume, José Jiménez, Juan, Victoria López, María, Manuel Nicolau, José, Vicente, José, Gracia, Ricardo, Moret-Fernández, David
Published in Computers and electronics in agriculture (01.02.2021)
Published in Computers and electronics in agriculture (01.02.2021)
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