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	1.	Abnormal heart rate recovery and deficient chronotropic response after submaximal exercise in young Marfan syndrome patients. [electronic resource] by Peres, Paulo Carvalho, Antônio C Perez, Ana Beatriz A Medeiros, Wladimir M Producer: 20170213 In: Cardiology in the young vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome. [electronic resource] by Porto, Marianna P R Vergani, Naja Carvalho, Antonio Carlos C Cernach, Mirlene C S P Brunoni, Decio Perez, Ana Beatriz A Producer: 20110714 In: Genetics and molecular biology vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes. [electronic resource] by D'Angelo, Carla S Varela, Monica C de Castro, Cláudia Ie Kim, Chong A Bertola, Débora R Lourenço, Charles M Perez, Ana Beatriz A Koiffmann, Celia P Producer: 20141121 In: Molecular cytogenetics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Molecular analysis of homocystinuria in Brazilian patients. [electronic resource] by Porto, Marianna P R Galdieri, Luciano C Pereira, Vanessa G Vergani, Naja da Rocha, José Cláudio C Micheletti, Cecília Martins, Ana Maria Perez, Ana Beatriz A Almeida, Vânia D Producer: 20060124 In: Clinica chimica acta; international journal of clinical chemistry vol. 362 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion. [electronic resource] by Migliavacca, Michele P Sobreira, Nara L M Antonialli, Graziela P M Oliveira, Mariana M Melaragno, Maria Isabel S A Casteels, Ingele de Ravel, Thomy Brunoni, Decio Valle, David Perez, Ana Beatriz A Producer: 20150820 In: American journal of medical genetics. Part A vol. 164A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Mutations in KCTD1 cause scalp-ear-nipple syndrome. [electronic resource] by Marneros, Alexander G Beck, Anita E Turner, Emily H McMillin, Margaret J Edwards, Matthew J Field, Michael de Macena Sobreira, Nara Lygia Perez, Ana Beatriz A Fortes, Jose A R Lampe, Anne K Giovannucci Uzielli, Maria Luisa Gordon, Christopher T Plessis, Ghislaine Le Merrer, Martine Amiel, Jeanne Reichenberger, Ernst Shively, Kathryn M Cerrato, Felecia Labow, Brian I Tabor, Holly K Smith, Joshua D Shendure, Jay Nickerson, Deborah A Bamshad, Michael J Producer: 20130604 In: American journal of human genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)