Short-Term Follow-Up of a Brazilian Patient With Cantu SyndromeGRAZIADIO, Carla; ROSA, Rafael F. M; ROSA, Rosana C. M et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 5, pp 1184-1188, issn 1552-4825, 5 p.Article

Inv dup del(4) (:p13 → p16.3: p16.3 → qter) in a Girl Without Typical Manifestations of Wolf―Hirschhorn SyndromePASKULIN, Giorgio A; RIEGEL, Mariluce; COTTER, Philip D et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 6, pp 1302-1307, issn 1552-4825, 6 p.Article

New Report of a Familial Case of Moebius Syndrome Presenting Skeletal FindingsGRAZIADIO, Carla; LORENZEN, Marina B; ROSA, Rafael F. M et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 8, pp 2134-2138, issn 1552-4825, 5 p.Article

Trisomy 18: Experience of a Reference Hospital from the South of BrazilROSA, Rafael F. M; ROSA, Rosana C. M; LORENZEN, Marina B et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 7, pp 1529-1535, issn 1552-4825, 7 p.Article

Additional Features in a New Case of a Girl Presenting Brachyphalangy, Polydactyly and Tibial Aplasia/HypoplasiaBERNARDI, Pricila; GRAZIADIO, Carla; ROSA, Rafael F. M et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 7, pp 1532-1538, issn 1552-4825, 7 p.Article

Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypesDE ZWART-STORM, Eugene A; ROSA, Rafael F. M; VAN GEEL, Michel et al.Experimental dermatology. 2011, Vol 20, Num 5, pp 408-412, issn 0906-6705, 5 p.Article

Richieri-Costa and Pereira Form of Acrofacial Dysostosis: First Description of an Adult With Mesomelic Shortness of the Lower LimbsGRAZIADIO, Carla; ROSA, Rafael F. M; ZEN, Paulo R. G et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 12, pp 2886-2888, issn 1552-4825, 3 p.Article

22q11.2 Deletion Syndrome in Patients Admitted to a Cardiac Pediatric Intensive Care Unit in BrazilROSA, Rafael F. M; PILLA, Carlo B; PASKULIN, Giorgio A et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 13, pp 1655-1661, issn 1552-4825, 7 p.Article

Report of a child with a complete de novo 17p duplication localized to the terminal region of the long arm of chromosome 17PASKULIN, Giorgio A; ZEN, Paulo R. G; ROSA, Rafael F. M et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 12, pp 1366-1370, issn 1552-4825, 5 p.Article