Your search returned 13 results.

Results
	1.	Parental decisions to abort or continue a pregnancy following prenatal diagnosis of chromosomal abnormalities in a setting where termination of pregnancy is not legally available. [electronic resource] by Quadrelli, Roberto Quadrelli, Andrea Mechoso, Búrix Laufer, Mauricio Jaumandreu, Ciro Vaglio, Alicia Producer: 20070607 In: Prenatal diagnosis vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations. [electronic resource] by Vaglio, Alicia Milunsky, Aubrey Huang, Xin-Li Quadrelli, Andrea Mechoso, Búrix Quadrelli, Roberto Producer: 20070720 In: European journal of medical genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Prenatal screening for chromosome abnormalities in a region with no access to termination of pregnancy. [electronic resource] by Paolini, Cynthia I Gadow, Andrea Petracchi, Florencia Igarzabal, Laura Quadrelli, Roberto Gadow, Enrique C Producer: 20091002 In: Prenatal diagnosis vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family. [electronic resource] by Lemes, Aida Blasi, Paola Gonzales, Gabriel Russi, Maria E Quadrelli, Roberto Novelletto, Andrea Malaspina, Patrizia Producer: 20070108 In: Journal of inherited metabolic disease vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations. [electronic resource] by Vaglio, Alicia Milunsky, Aubrey Huang, Xin-Li Quadrelli, Andrea Mechoso, Búrix Maher, Thomas A Quadrelli, Roberto Producer: 20081014 In: European journal of medical genetics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	A de novo complex chromosome rearrangement involving chromosomes 2, 3, 5, 9 and 11 detected prenatally and studied postnatally by conventional cytogenetics and molecular cytogenetic analyses. [electronic resource] by Mechoso, Búrix Vaglio, Alicia Quadrelli, Andrea Mark, Hon Fong L Huang, Xin-Li Milunsky, Aubrey Quadrelli, Roberto Producer: 20070703 In: Fetal diagnosis and therapy vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient. [electronic resource] by Quadrelli, Roberto Strehle, Eugen M Vaglio, Alicia Larrandaburu, Mariela Mechoso, Búrix Quadrelli, Andrea Fan, Yao-Shan Huang, Taosheng Producer: 20070510 In: Genetic testing vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	A 14-year follow-up of a case detected prenatally of partial trisomy 13q21.32-qter and monosomy 18q22.3-qter as a result of a maternal complex chromosome rearrangement involving chromosomes 6, 13, and 18. [electronic resource] by Quadrelli, Roberto Quadrelli, Andrea Milunsky, Aubrey Zou, Ying S Huang, Xin-Li Viera, Estela Mechoso, Búrix Bellini, Sylvia Costabel, Mariana Vaglio, Alicia Producer: 20090723 In: Genetic testing and molecular biomarkers vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication. [electronic resource] by Vaglio, Alicia Milunsky, Aubrey Quadrelli, Andrea Huang, Xin-Li Maher, Thomas Mechoso, Búrix Martínez, Susana Pagano, Sinthia Bellini, Sylvia Costabel, Mariana Quadrelli, Roberto Producer: 20100525 In: Genetic testing and molecular biomarkers vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Prenatal and postnatal characterization of a de novo Xq22.1 terminal deletion. [electronic resource] by Vaglio, Alicia Greif, Gonzalo Bernal, Mery Sanguinetti, Carlos Mechoso, Búrix Quadrelli, Andrea Tucci, Paula Milunsky, Jeff M Huang, Xin-Li Pagano, Sinthia Quadrelli, Roberto Producer: 20070402 In: Genetic testing vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death. [electronic resource] by Xue, Yuan Schoser, Benedikt Rao, Aliz R Quadrelli, Roberto Vaglio, Alicia Rupp, Verena Beichler, Christine Nelson, Stanley F Schapacher-Tilp, Gudrun Windpassinger, Christian Wilcox, William R Producer: 20170106 In: Circulation. Cardiovascular genetics vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. [electronic resource] by Rock, Matthew J Prenen, Jean Funari, Vincent A Funari, Tara L Merriman, Barry Nelson, Stanley F Lachman, Ralph S Wilcox, William R Reyno, Soraya Quadrelli, Roberto Vaglio, Alicia Owsianik, Grzegorz Janssens, Annelies Voets, Thomas Ikegawa, Shiro Nagai, Toshiro Rimoin, David L Nilius, Bernd Cohn, Daniel H Producer: 20080902 In: Nature genetics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Antenatal Diagnosis of De Novo Balanced Structural Chromosome Aberrations in Latin America. [electronic resource] by Méndez-Rosado, Luis A Quiñones-Masa, Olga Vaglio, Alicia Quadrelli, Roberto Sanchez-Peñarate, Diana Soriano-Torres, Michel Cerrillo-Hinojosa, Mabel Escobedo-Aguirre, Fernando Gutiérrez-Nájar, Alfonso Venegas-Barbosa, Patricia Barrios-Martinez, Anduriña Echavarría-Estenoz, Dulce Carbonell-de la Torre, Pedro Pimentel-Benitez, Héctor I González-Salé, Orlando Hernádez-Gil, José de la Torre-Santos, Maria Elena Alonso-García, Yamile Cedeño-Aparicio, Niurka Torriani-Mendoza, Patricia Morales-Rodríguez, Enny Martín-García, Diana Cuétara-Lugo, Elizabeth González-Domínguez, Niurka Producer: 20191206 In: MEDICC review vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)