Výsledky vyhledávání - Alberto Plaja
- Zobrazuji výsledky 1 - 5 z 5
-
1
Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18 000 consecutive clinical samples Autor Vincenzo Cirigliano, Gianfranco Voglino, M. Paz Cañadas, A. Marongiu, Maijo Ejarque, Elena Ordóñez, Alberto Plaja, M Massobrio, Tullia Todros, Carme Fuster, M Campogrande, J. Egozcue, Matteo Adinolfí
Vydáno 2004Artigo -
2
Assessment of QF-PCR as the First Approach in Prenatal Diagnosis Autor Célia Bádenas, Laia Rodríguez‐Revenga, Carmen Morales, C. Mediano, Alberto Plaja, Ma Mar Pérez-Iribarne, Anna Soler, Núria Clusellas, A. Borrell, M. Sanchez, E. Miró, Aurora Sánchez, Montserrat Milá, Wladimiro Jiménez
Vydáno 2010Artigo -
3
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B Autor Sandra Hanks, Kim Coleman, Sarah Reid, Alberto Plaja, Helen V. Firth, David Fitzpatrick, Alexa Kidd, K Méhes, Richard Nash, Nathanial Robin, Nora Shannon, John Tolmie, John Swansbury, Alexandre Irrthum, Jenny Douglas, Nazneen Rahman
Vydáno 2004Artigo -
4
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis Autor Lluı́s Armengol, Julián Nevado, Clara Serra‐Juhé, Alberto Plaja, C. Mediano, Fe Amalia García‐Santiago, Manel García‐Aragonés, Olaya Villa, Elena Mansilla, Cristina Preciado, Luís Fernández, María Ángeles Mori, Lidia García‐Pérez, Pablo Lapunzina, Luis A. Pérez‐Jurado
Vydáno 2011Artigo -
5
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome Autor Julián Nevado, Jill A. Rosenfeld, Rocío Mena, María Palomares‐Bralo, Elena Vallespín, María Ángeles Mori, Jair Tenorio, Karen W. Gripp, Elizabeth Denenberg, Miguel Del Campo, Alberto Plaja, Rubén Martín‐Arenas, Fernando Santos‐Simarro, Lluı́s Armengol, Gordon C. Gowans, María Orera, M Carmen Sanchez-Hombre, Esther Corbacho-Fernández, Alberto Fernández‐Jaén, Chad R. Haldeman‐Englert, Sulagna C. Saitta, Holly Dubbs, Duban B Bénédicte, Xia Li, Lani Devaney, Mary Beth Dinulos, Stephanie E. Vallee, M. Carmen Crespo, Blanca Fernández, Victoria E Fernández-Montaño, Inmaculada Rueda‐Arenas, María Torres, Jay W. Ellison, Salmo Raskin, Carlos Venegas-Vega, Fernando Fernández‐Ramírez, Alicia Delicado, Sixto García‐Miñaúr, Pablo Lapunzina
Vydáno 2015Artigo
Vyhledávací nástroje:
Související témata
Biology
Chromosome
Gene
Genetics
Fetus
Medicine
Pregnancy
Prenatal diagnosis
Aneuploidy
Karyotype
Microcephaly
Amniocentesis
Amniotic fluid
Bioinformatics
Cancer research
Cell-free fetal DNA
Chorionic villi
Copy-number variation
Cytogenetics
Exon
Gene expression
Genome
Germline
Germline mutation
Kinetochore
Microarray
Microdeletion syndrome
Missense mutation
Multiplex
Multiplex ligation-dependent probe amplification