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Journal of Pediatric Genetics|May 13, 2017
Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging FindingsAntonio Richieri-Costa, Siulan Vendramini-Pittoli, Nancy Mizue Kokitsu-Nakata, et al.
American Journal of Medical Genetics. Part A|November 23, 2011
Auriculo-condylar syndrome. Confronting a diagnostic challengeNancy Mizue Kokitsu-Nakata, Roseli Maria Zechi-Ceide, Siulan Vendramini-Pittoli, et al.
Clinical Dysmorphology|March 28, 2015
An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two casesSiulan Vendramini-Pittoli, Maria L Guion-Almeida, Juliana M Santos, et al.
American Journal of Medical Genetics. Part A|June 7, 2023
Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature reviewHenrique Regonaschi Serigatto, Nancy Mizue Kokitsu-Nakata, Siulan Vendramini-Pittoli, et al.
American Journal of Medical Genetics. Part A|June 29, 2012
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndromeNancy Mizue Kokitsu-Nakata, Aline Lourenço Petrin, Jason Paul Heard, et al.
Molecular Syndromology|December 7, 2016
Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual DisabilityBruno F Gamba, Roseli M Zechi-Ceide, Nancy M Kokitsu-Nakata, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|March 30, 2026
Unusual Association of Orofacial Cleft and Finger-Like Skin Appendages With or Without Constriction Rings: A Disorganization-Like Phenotype?Henrique Regonaschi Serigatto, Siulan Vendramini-Pittoli, Priscila Padilha Moura, et al.
American Journal of Medical Genetics. Part A|May 31, 2017
Mandibulofacial dysostosis Bauru type: Refining the phenotypePriscila P Moura, Nancy M Kokitsu-Nakata, Marília S Yatabe, et al.
Bone|August 17, 2021
A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defectsEleonora Palagano, Christopher T Gordon, Paolo Uva, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|December 26, 2025
Neuroendocrine Axis Investigation in Patients with Arhinia, Hemiarhinia and Associated MalformationsLuisa Helena Assis Bustamante, Bárbara Casarin Henrique Sanches, Lucas Casagrande Passoni Lopes, et al.
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