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Search Results - Piazzon, Flavia B
Search Results - Piazzon, Flavia B
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Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi–Goutières Syndrome Phenotype
by
Peixoto de Barcelos, Isabella
,
Bueno, Clarissa
,
S. Godoy, Luís Filipe
,
Pessoa, André
,
A. Costa, Larissa
,
C. Monti, Fernanda
,
Souza-Cabral, Katiane
,
Listik, Clarice
,
Castro, Diego
,
Della-Ripa, Bruno
,
Freua, Fernando
,
C. Pires, Laís
,
T. Krüger, Lia
,
D. Gherpelli, José Luiz
,
B. Piazzon, Flavia
,
P. Monteiro, Fabiola
,
T. Lucato, Leandro
,
Kok, Fernando
Published in
Brain sciences
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Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior
by
Dutra, Roberta L.
,
Piazzon, Flavia B.
,
Zanardo, Évelin A.
,
Costa, Thais Virginia Moura Machado
,
Montenegro, Marília M.
,
Novo-Filho, Gil M.
,
Dias, Alexandre T.
,
Nascimento, Amom M.
,
Kim, Chong Ae
,
Kulikowski, Leslie D.
Published in
American journal of medical genetics. Part A
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Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications
by
Christofolini, Denise M
,
Piazzon, Flavia B
,
Evo, Carolina
,
Mafra, Fernanda A
,
Cosenza, Stella R
,
Dias, Alexandre T
,
Barbosa, Caio P
,
Bianco, Bianca
,
Kulikowski, Leslie D
Published in
Molecular cytogenetics
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Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications
by
Christofolini, Denise M
,
Piazzon, Flavia B
,
Evo, Carolina
,
Mafra, Fernanda A
,
Cosenza, Stella R
,
Dias, Alexandre T
,
Barbosa, Caio P
,
Bianco, Bianca
,
Kulikowski, Leslie D
Published in
Molecular cytogenetics
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Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
by
Coughlin, Curtis R.
,
Tseng, Laura A.
,
Abdenur, Jose E.
,
Ashmore, Catherine
,
Boemer, François
,
Bok, Levinus A.
,
Boyer, Monica
,
Buhas, Daniela
,
Clayton, Peter T.
,
Das, Anibh
,
Dekker, Hanka
,
Evangeliou, Athanasios
,
Feillet, François
,
Footitt, Emma J.
,
Gospe, Sidney M.
,
Hartmann, Hans
,
Kara, Majdi
,
Kristensen, Erle
,
Lee, Joy
,
Lilje, Rina
,
Longo, Nicola
,
Lunsing, Roelineke J.
,
Mills, Philippa
,
Papadopoulou, Maria T.
,
Pearl, Phillip L.
,
Piazzon, Flavia
,
Plecko, Barbara
,
Saini, Arushi G.
,
Santra, Saikat
,
Sjarif, Damayanti R.
,
Stockler‐Ipsiroglu, Sylvia
,
Striano, Pasquale
,
Van Hove, Johan L.K.
,
Verhoeven‐Duif, Nanda M.
,
Wijburg, Frits A.
,
Zuberi, Sameer M.
,
Karnebeek, Clara D.M.
Published in
Journal of inherited metabolic disease
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American Journal Of Medical Genetics. Part A
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Acute Demyelinating Encephalomyelitis
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Aldehyde Dehydrogenase - Deficiency
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