All papers authored by J. F. Mazzeu
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Felipe von Glehn
Differential diagnosis between multiple sclerosis and leukodystrophies – A scoping review
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Paulo M. Pierry,
Luiz Gustavo D. Almeida,
Marcelo G. Paula,
Krepischi Acv,
Matheus Carvalho Bürger,
Adriano Bonaldi,
Gustavo G. G. Fonseca
and 23 other authors
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Muriel de La Dure-Molla ,
Resende Kk,
Riou Mc,
Yamaguti Pm,
Benjamin Fournier ,
Sophie Rondeau,
Laurence Pacot ,
Ariane Berdal,
Rufino Felizardo,
Juliana Forte Mazzeu ,
Valérie Cormier-Daire
and 2 other authors
Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta
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Y. Soares de Lima,
P. A. C. dos Santos,
G. Alcaraz ,
E. N. S. Guerra,
L. C. Castro,
S. F. de Oliveira
and 6 other authors
Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta
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Juliana F. Mazzeu
ZDHHC9 X‐linked intellectual disability: Clinical and molecular characterization
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Janson J. White,
Moez Dawood,
Tulio C. Lins,
Marcela A. Chiabai,
Ellen van Beusekom,
Mara S. Cordoba,
Erica C. C. Caldas Rosa,
Hulya Kayserili,
Virginia Kimonis,
Erica Wu
and 34 other authors
Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome
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Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant
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Aline Pic-Taylor
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Luiz Claudio Castro,
Juliana F. Mazzeu
SHORT syndrome in an adult Brazilian patient
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Juliana F. Mazzeu ,
Jesper Eisfeldt,
Christopher M. Grochowski ,
Janson White,
Zeynep C. Akdemir,
Shalini N. Jhangiani,
Donna M. Muzny,
Richard A. Gibbs ,
Anna Lindstrand,
James R. Lupski ,
V. Reid Sutton,
Claudia M. B. Carvalho
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
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Rachel H. Fein ,
Claudia M. B. Carvalho ,
V. Reid Sutton ,
Juliana F. Mazzeu ,
Marni E. Axelrad
Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome
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Chaofan Zhang,
Roman J. Shypailo,
Juliana F. Mazzeu ,
Claudia M. B. Carvalho ,
V. Reid Sutton
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Paulo Vidal Campregher,
Fabio Pires de Souza Santos,
Juliana Forte Mazzeu ,
Rinaldo Wellerson Pereira
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Shélida Vasconcelos Braz,
Isabela Porto de Toledo ,
Hercilio Martelli‐Júnior,
Juliana Forte Mazzeu ,
Eliete Neves Silva Guerra ,
Ricardo D. Coletta ,
Ana Carolina Acevedo
Syndromes with gingival fibromatosis: a systematic review.
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João Batista Sousa,
Robert Pogue,
Ana Carolina Acevedo,
Eliete Neves Silva Guerra
Dento-osseous anomalies in patients with familial adenomatous polyposis: A follow-up study
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Silviene Fabiana de Oliveira,
Ana Carolina Vaqueiro Figueiredo ,
José Eduardo Baroneza ,
Jorge Yuseff Afiune ,
Aline Pic-Taylor ,
Silviene Fabiana de Oliveira ,
Juliana Forte Mazzeu
Genetic and genomics in congenital heart disease: a clinical review
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