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51
- Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria
- Font, Mariona; Feliubadaló , Lí dia; Estivill, Xavier; Nunes, Virginia; Golomb, Eliahu; Kreiss, Yitshak; Pras, Elon; Bisceglia, Luigi; d’Adamo, Adamo P.; Zelante, Leopoldo; Gasparini, Paolo; Bassi, Maria; George Jr, Alfred L.; Manzoni, Marta; Riboni, Mirko; Ballabio, Andrea; Borsani, Giuseppe; Reig, Nú ria; Ferná ndez, Esperanza; Zorzano, Antonio; Bertran, Joan; Palací n, Manuel; Centre de Genè tica Mè dica i Molecular (IRO), Hospital Duran i Reynals, Autoví a de Castelldefels Km 2.7, L’Hospitalet de Llobregat, E-08907 Barcelona, Spain,; Centre de Genè tica Mè dica i Molecular (IRO), Hospital Duran i Reynals, Autoví a de Castelldefels Km 2.7, L’Hospitalet de Llobregat, E-08907 Barcelona, Spain,; Centre de Genè tica Mè dica i Molecular (IRO), Hospital Duran i Reynals, Autoví a de Castelldefels Km 2.7, L’Hospitalet de Llobregat, E-08907 Barcelona, Spain,; Centre de Genè tica Mè dica i Molecular (IRO), Hospital Duran i Reynals, Autoví a de Castelldefels Km 2.7, L’Hospitalet de Llobregat, E-08907 Barcelona, Spain,; Department of Pathology, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel,; Department of Medicine C,; Department of Medicine C,; Medical Genetics Service, IRCCS-Hospital ‘CSS’, San Giovanni Rotondo, Italy,; Medical Genetics Service, IRCCS-H; (Human molecular genetics, v.10, 2001, pp.305-316)
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52
- Two novel mutations in the WASP gene in Wiskott-Aldrich patients of Chile origin: W64R and A124E
- Fillat, Cristina; Españ ol, Teresa; Oset, Marta; Cavieres, Mirta; dal Borgo, Patricia; Estivill, Xavier; Volpini, Victor; ; (Human mutation, v.15, 2000, pp.487-487)
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53
- Cloning of the human phospholipase A2 activating protein (<I>hPLAP</I>) gene on the chromosome 9p21 melanoma deleted region
- Ruiz, Anna; Nadal, Marga; Puig, Susana; Estivill, Xavier; ; (Gene, v.239, 1999, pp.155-161)
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54
- Severe Homozygous Protein C Deficiency: Identification of a Splice Site Missense Mutation (184, Q → H) in Exon 7 of the Protein C Gene
- Soria, J M; Brito, D; Barceló , J; Fontcuberta, J; Botero, L; Maldonado, J; Estivill, X; Sala, N; The Molecular Genetics Department IRO Cancer Research Institute, Hospital Duran i Reynals, Barcelona, Spain; Haematology Service, Hospital Regional Carlos Haya, Mà laga, Spain; Haematology Service, Hospital Regional Carlos Haya, Mà laga, Spain; Haemostasis and Thrombosis Unit, Haematology Service, Hospital de Sant Pau, Barcelona, Spain; Haematology Service, Hospital Regional Carlos Haya, Mà laga, Spain; Haematology Service, Hospital Regional Carlos Haya, Mà laga, Spain; The Molecular Genetics Department IRO Cancer Research Institute, Hospital Duran i Reynals, Barcelona, Spain; The Molecular Genetics Department IRO Cancer Research Institute, Hospital Duran i Reynals, Barcelona, Spain; (Thrombosis and haemostasis, v.72, 1994, pp.065-069)
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- Identification of somatic and germline mitochondrial DNA sequence variants in prostate cancer patients
- Gó mez-Zaera, Montserrat; Abril, Jesú s; Gonzá lez, Laura; Aguiló , Fernando; Condom, Enric; Nadal, Marga; Nunes, Virginia; Centre de Genè tica Mè dica i Molecular-IRO-IDIBELL, Hospital Duran i Reynals (3a planta), Gran Via s/n km 2’7, 08907 L’Hospitalet de Llobregat, Barcelona, Spain; Centre de Genè tica Mè dica i Molecular-IRO-IDIBELL, Hospital Duran i Reynals (3a planta), Gran Via s/n km 2’7, 08907 L’Hospitalet de Llobregat, Barcelona, Spain; Centre de Genè tica Mè dica i Molecular-IRO-IDIBELL, Hospital Duran i Reynals (3a planta), Gran Via s/n km 2’7, 08907 L’Hospitalet de Llobregat, Barcelona, Spain; Department of Urology, CSUB-IDIBELL, Hospital Universitari de Bellvitge, Feixa Llarga s/n, 08907 L’Hospitalet de Llobregat, Barcelona, Spain; Department of Pathology, CSUB-IDIBELL, Hospital Universitari de Bellvitge, Feixa Llarga s/n, 08907 L’Hospitalet de Llobregat, Barcelona, Spain; Centre de Genè tica Mè dica i Molecular-IRO-IDIBELL, Hospital Duran i Reynals (3a planta), Gran Via s/n km 2’7, 08907 L’Hospitalet de Llobregat, Barcelo; (Mutation research. Fundamental and molecular mechanisms of mutagenesis, v.595, 2006, pp.42-51)
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- Narodne Basme I Bajanja. By Ljubinko Radenković. Niš: Udruženi izdavači-IRO Gradina/Priština: Udruženi izdavači-NIRO Jedinstvo/Kraguevac: Udruženi izdaviči-NIRO Svetlost, 1982. 528 pp. - Obriady I Obriadovyi Fol'klor. Edited by V. K. Sokolova. Moscow: Izdatel'stvo Nauka, 1982. 279 pp. 1.30 rubles.
- Conrad, Joseph L.; ; (Slavic review, v.44, 1985, pp.374-374)
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57
- Biochemical and EPR characterization of a high potential iron-sulfur protein in <i>Thiobacillus ferrooxidans</i>
- Cavazza Christine; Guigliarelli Bruno; Bertrand Patrick; Bruschi Mireille; ; (FEMS Microbiology Letters, v.130, 1995, pp.193-199)
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- A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families
- Ló pez-Bigas, Nú ria; Melchionda, Salvatore; Gasparini, Paolo; Borragá n, Alfonso; Arboné s, Maria Lourdes; Estivill, Xavier; ; (Human mutation, v.19, 2002, pp.458-458)
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59
- Intersectin 2, a new multimodular protein involved in clathrin-mediated endocytosis
- Pucharcos, Carles; Estivill, Xavier; de la Luna, Susana; Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, Avia. de Castelldefels Km 2.7, L’Hospitalet de Llobregat, 08907 Barcelona, Spain; Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, Avia. de Castelldefels Km 2.7, L’Hospitalet de Llobregat, 08907 Barcelona, Spain; Corresponding author. Fax: (34)-93-2607776; (FEBS letters, v.478, 2000, pp.43-51)
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- Tissue Factor (TF) and Urokinase Plasminogen Activator Receptor (uPAR) and Bleeding Complications in Leukemic Patients
- Ló pez-Pedrera, Chary; Jardí , Merce; del Mar Malagó n, Maria; Inglé s-Esteve, Julia; Dorado, Gabriel; Torres, Antonio; Fé lez, Jordi; Velasco, Francisco; The Servicio de Hematologí a Hospital Reina Sofia, Có rdoba, Spain; Institut Recerca Oncolò gica (IRO), Hospital Duran i Reynals, Barcelona, Spain; The Servicio de Hematologí a Hospital Reina Sofia, Có rdoba, Spain; The Servicio de Hematologí a Hospital Reina Sofia, Có rdoba, Spain; Institut Recerca Oncolò gica (IRO), Hospital Duran i Reynals, Barcelona, Spain; The Servicio de Hematologí a Hospital Reina Sofia, Có rdoba, Spain; (Thrombosis and haemostasis, v.77, 1997, pp.062-070)
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