Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers von Dutra, Roberta Lelis, de Campos Pieri, Patrícia, Teixeira, Ana Carolina Dias, Honjo, Rachel Sayuri, Bertola, Debora Romeo, Kim, Chong Ae

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An easy, reproducible and cost-effective method for andrologists to improve the laboratory diagnosis of non-obstructive azoospermia: a novel microcentrifugation technique von Monteiro, Rosa Alice Casemiro, Pariz, Juliana Risso, Pieri, Patrícia de Campos, Hallak, Jorge

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RE: An easy, reproducible and cost-effective method for andrologists to improve the laboratory diagnosis of nonobstructive azoospermia: a novel microcentrifugation technique von Monteiro, Rosa Alice Casemiro, Pariz, Juliana Risso, Pieri, Patrícia de Campos, Hallak, Jorge

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A duplex allele-specific amplification PCR to detect SMN1 deletion von Pieri, Patrícia de Campos, Nogueira, Jeronimo de Alencar, Marques-Dias, Maria Joaquina, Resende, Bernadete, Kim, Chong Ae, Reed, Umbertina Conti, Okay, Thelma Suely

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Chronic mucocutaneous candidiasis and systemic lupus erythematosus: a new variant of chronic mucocutaneous candidiasis? von de Moraes-Vasconcelos, Dewton, Domingues-Ferreira, Mauricio, de Campos Pieri, Patricia, da Silva Duarte, Alberto Jose

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Aplicação da avaliação ultraestrutural de espermatozoides na rotina da andrologia von Pariz, Juliana Risso, Chemes, Héctor Edegardo, Monteiro, Rosa Alice Casemiro, Pieri, Patrícia de Campos, Hallak, Jorge

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NOVEL CFTR MISSENSE MUTATIONS IN BRAZILIAN PATIENTS WITH CONGENITAL ABSENCE OF VAS DEFERENS: COUNSELING ISSUES von de Campos Pieri, Patrícia, Missaglia, Mariangela Tuzzolo, de Almeida Roque, Juliana, Moreira-Filho, Carlos Alberto, Hallak, Jorge

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Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) Caused by Homozygous P326L AIRE Mutations in a Brazilian Family von de Campos Pieri, Patrícia, Biologist, Laboratory of Medical Investigation 36, Pediatrics Department FMUSP, São Paulo, Brazil, Oliveira, Joao B., Associate Researcher, Molecular Immunology and Genetics Section, Laboratory of Medical Investigation #56, USP, São Paulo, Brazil, Abe Jacob, Cristina Miuki, Head of Unit, Department of Pediatrics, Allergy and Immunology Unit FMUSP, São Paulo, Brazil, Duarte, Alberto J.S., Lab Director, Laboratory of Medical Investigation #56 (LIM-56), USP, São Paulo, Brazil, Pastori, Antonio Carlos, Assistant Professor, Pediatrics Department, Allergy and Immunology Unit FMUSP, São Paulo, Brazil, Carneiro-Sampaio, Magda Maria, Head of Department, Department of Pediatrics, Allergy and Immunology Unit, FMUSP, São Paulo, Brazil

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NUTRITIONAL STATUS EVALUATION BY ANTHROPOMETRIC ASSESSMENT OF A GROUP OF WORKERS IN SÃO PAULO CITY, BRASIL von Pieri, Patricia de Campos, Assis, Gustavo Marchese, ti, Bruno Luis Peixoto, Giori, Fabiana Ferreira, de Camargo, Maria Azevedo, Neves, Lorena Piquini, de Brito, Isabella Aguiar, Freiberg, Clara

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Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issues Mutações novas no gene CFTR de pacientes brasileiros portadores de ag... von Patricia de Campos Pieri, Mariangela Tuzzollo Missaglia, Juliana de Almeida Roque, Carlos Alberto Moreira-Filho, Jorge Hallak

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CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative von Luque, Juan, Webb, Susan M., Aguado, Carmen, Almoguera, Berta, Arjona, Emi, Masó, Anna Aulinas, Badell, Isabel, Baiget, Montserrat, Benito Sanz, Sara, Borralleras, Cristina, Borrego, Salud, Bou de Pieri, Francesc, Cámara, Yolanda, Camats‐Tarruella, Núria, Cantarero, Lara, Caparrós‐Martín, JoséAntonio, Casado, Mercedes, Cascón, Alberto, Catala, Albert, Cediel, Rafael, Cervera, Javier, Contreras, Julio, Cormand, Bru, Corral, Javier, Corton, Marta, Costa‐Roger, Mar, Crispi, Fátima, Cuezva, JoséM., Dalmau, Josep, Luna, Susana, del Castillo, Ignacio, Del Pozo, Ángela, del Río, Marcela, Escámez, María José, Fernández‐Cancio, Mónica, Fernández‐San Jose, Patricia, Gallardo, Eduard, García‐Redondo, Alberto, Teresa García‐Silva, M., García‐Villoria, Judit, García Santiago, Fe, Garrido, Gema, Giroud‐Gerbetant, Judith, Gonzalez‐Cabo, Pilar, Gonzalez‐Casacuberta, Ingrid, González‐Quintana, Adrián, Gort, Laura, Herreras, Enrique, Jimenez‐Mallebrera, Cecilia, Luz Juarez‐Flores, Diana, Lapunzina, Pablo, López‐Laso, Eduardo, López de Heredia, Miguel, Lorda‐Sanchez, Isabel, Luque, Juan, Marfany, Gemma, Martí, Ramón, Martin, Yolanda, Martin‐Merida, Inmaculada, Martinez‐Delgado, Beatriz, Carmen Martínez‐Romero, María, Millán, JoséM., Molla, Belén, Moltó, Eduardo, Montero, Raquel, Montoliu, Lluis, Moreno, JoséCarlos, A Mori, María, Morte, Beatriz, Muñoz‐Pujol, Gerard, Murillo‐Cuesta, Silvia, Navarro, Susana, Navas, Plácido, Ángela Nieto, M., O′Callaghan, Mar, Olavarrieta, Leticia, Ormazabal, Aida, Ortiz‐Romero, Paula, Osorio, Ana, Palencia‐Campos, Adrián, Pie, Juan, Pinto, Sheila, Ranea, Juan A.G., Reina‐Castillón, Judith, Robledo, Mercedes, Carlos Rodriguez‐Aguilera, Juan, Rodríguez‐Palmero, Agustí, Romá‐Mateo, Carlos, Ruiz, Montserrat, Ruiz‐Arenas, Carlos, Santacatterina, Fulvio, Santamarina, Marta, Santos‐Ocaña, Carlos, Santos Simarro, Fernando, Schlüter, Agatha, Tizzano, Eduardo, Tort, Frederic, Vega, Ana, Vélez‐Santamaria, Valentina, Vílchez, Juan J.

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