Juliana Forte Mazzeu
16PUBLICATIONS
30CO-AUTHORS
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Publications (16)
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|Jul 04, 2025
Longitudinal Insights Into Polydactyly-Macrocephaly Syndrome: A Case Report of an Adult With a Recurrent MAX Variant.Reyner S de Oliveira, Karina F Henriques, Samyra E Lima
|Jun 02, 2025
A Novel Skeletal Dysplasia With Premaxilla Overgrowth, Gingival Hyperplasia, and Dental Hypercementosis.Paulo Marcio Yamaguti, Shélida Vasconcelos Braz, Audrey Asselin
|Jan 23, 2025
Balanced Translocation t(3;12) Disrupting HMGA2 and NAALADL2 Genes in Twins With Silver-Russell Syndrome and Intellectual Disability.Vanessa Sodré de Souza, Halinna Dornelles Wawruk, Mana M Mehrjouy
|Jan 15, 2025
SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family.Samira Spineli-Silva, Larissa Bretanha Pontes, Nicole de Leeuw
|Jun 26, 2024
Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.Patricia C Mazzonetto, Darine Villela, Ana C V Krepischi
|Nov 23, 2022
ZDHHC9 X-linked intellectual disability: Clinical and molecular characterization.Anna Karolina Silva Ramos, Erica Carine Campos Caldas-Rosa, Bárbara Merfort Ferreira
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Frequent Collaborators
3 joint publications
Claudia M B Carvalho
2 joint publications
V Reid Sutton
2 joint publications
Társis Paiva Vieira
2 joint publications
Aline Pic-Taylor
2 joint publications
James R Lupski
1 joint publications
Roseli M Zechi-Ceide
1 joint publications
Brian J Shayota
1 joint publications
David D Schwartz
1 joint publications
Rachel H Fein
1 joint publications
Juliane Isaac
