תוצאות חיפוש - Alberto Plaja
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1
Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18 000 consecutive clinical samples מאת 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
יצא לאור 2004Artigo -
2
Assessment of QF-PCR as the First Approach in Prenatal Diagnosis מאת 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
יצא לאור 2010Artigo -
3
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B מאת 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
יצא לאור 2004Artigo -
4
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis מאת 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
יצא לאור 2011Artigo -
5
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome מאת 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
יצא לאור 2015Artigo
כלי חיפוש:
נושאים קשורים
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