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New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.
Published in:
Molecular Syndromology, 2021, v. 12, n. 4, p. 219, doi. 10.1159/000515044
By:
- de Castro, Viviane Freitas;
- Mattos, Daniel;
- de Carvalho, Flavia Martinez;
- Cavalcanti, Denise Pontes;
- Duenas-Roque, Milagros M.;
- Llerena Jr, Juan;
- Cosentino, Viviana Raquel;
- Honjo, Rachel Sayuri;
- Leite, Julio Cesar Loguercio;
- Sanseverino, Maria Teresa;
- de Souza, Márcia Pereira Alves;
- Bernardi, Pricila;
- Bolognese, Ana Maria;
- Santana da Silva, Luiz Carlos;
- Barbero, Pablo;
- Correia, Patricia Santana;
- Bueno, Larissa Souza Mario;
- Savastano, Clarice Pagani;
- Orioli, Iêda Maria
Publication type:
Article
Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations.
Published in:
Clinical Genetics, 2000, v. 58, n. 1, p. 86, doi. 10.1034/j.1399-0004.2000.580118.x
By:
- Santana da Silva, Luiz Carlos;
- Carvalho, Tiago Santos;
- da Silva, Fernanda B.;
- Flores Pires, Ricardo;
- Giugliani, Roberto;
- Saraiva Pereira, Maria Luiza
Publication type:
Article
An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean.
Published in:
Cerebellum, 2023, v. 22, n. 4, p. 708, doi. 10.1007/s12311-022-01442-z
By:
- Jardim, Laura Bannach;
- Hasan, Ali;
- Kuo, Sheng-han;
- Magaña, Jonathan Javier;
- França Jr, Marcondes;
- Marques Jr, Wilson;
- Camejo, Claudia;
- Santana-da-Silva, Luiz Carlos;
- Leão, Emília Embiruçu;
- Espíndola, Gisele;
- Canals, Francisca;
- Miranda, Marcelo;
- Salvatierra, Igor;
- Cornejo-Olivas, Mario;
- Fernandez-Ruiz, Juan;
- Braga-Neto, Pedro;
- Dávila-Ortiz de Montellano, David José;
- Flores-Lagunes, Luis Leonardo;
- Dupré, Nicolas;
- Brais, Bernard
Publication type:
Article
Avaliação antropométrica de pacientes com suspeita de erros inatos do rnetabolismo.
Published in:
Brazilian Journal of Mother & Child Health (BJMCH) / Revista Brasileira de Saude Materno Infantil (RBSMI), 2012, v. 12, n. 3, p. 297, doi. 10.1590/S1519-38292012000300009
By:
- de Kássia Brito-Silva, Francilia;
- Pereira de Oliveira, Ana Paula;
- Santana-da-Silva, Luiz Carlos
Publication type:
Article
PD50 Value Of Healthcare Journey For Patients With Rare Diseases In The Brazilian Public Healthcare System: Methods And Preliminary Results.
Published in:
2022
By:
- Gargano, Ludmila;
- Salvador, Bianca Caroline;
- Santana-da-Silva, Luiz Carlos;
- Ogata, Gabriel;
- Nita, Marcelo Eidi;
- Félix, Têmis Maria
Publication type:
Abstract
PP142 Time-Driven Activity-Based Costing (TDABC) Of Brazilian Public Healthcare System (SUS): Preliminary Results For Osteogenesis Imperfecta (OI).
Published in:
2022
By:
- Azevedo, Camila;
- Souza, Juliana;
- Gargano, Ludmila;
- Salvador, Bianca;
- Santana-da-Silva, Luiz Carlos;
- Ogata, Gabriel;
- Nita, Marcelo;
- Félix, Têmis
Publication type:
Abstract
Evaluation of the tshr gene reveals polymorphisms associated with typical symptoms in primary congenital hypothyroidism.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 1, p. 71, doi. 10.1515/jpem-2015-0130
By:
- Cortinhas Alves, Erik Artur;
- Andrade, Raissa Coelho;
- de Melo Amaral, Carlos Eduardo;
- Fernandes Caldato, Milena Coelho;
- Rocha Bastos, Adriana Maria;
- da Silva, Luiz Carlos Santana
Publication type:
Article
Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.
Published in:
2021
By:
- Giugliani, Roberto;
- Barth, Anneliese Lopes;
- Dumas, Melissa Rossi Calvão;
- da Silva Franco, José Francisco;
- de Rosso Giuliani, Liane;
- Grangeiro, Carlos Henrique Paiva;
- Horovitz, Dafne Dain Gandelman;
- Kim, Chong Ae;
- de Araújo Leão, Emilia Katiane Embiruçu;
- de Medeiros, Paula Frassinetti Vasconcelos;
- Miguel, Diego Santana Chaves Geraldo;
- Moreira, Maria Espírito Santo Almeida;
- dos Santos, Helena Maria Guimarães Pimentel;
- da Silva, Luiz Carlos Santana;
- da Silva, Luiz Roberto;
- de Souza, Isabel Neves;
- Nalin, Tatiele;
- Garcia, Daniel
Publication type:
journal article
Does the Polymorphism in the Length of the Polyalanine Tract of FOXE1 Gene Influence the Risk of Thyroid Dysgenesis Occurrence?
Published in:
Journal of Thyroid Research, 2017, p. 1, doi. 10.1155/2017/2793205
By:
- Pimentel, Clebson Pantoja;
- Cortinhas-Alves, Erik Artur;
- de Oliveira, Edivaldo Herculano Correa;
- Santana-da-Silva, Luiz Carlos
Publication type:
Article
Pain perception genes, asthma, and oral health: A reverse genetics study.
Published in:
PLoS ONE, 2022, v. 17, n. 11, p. 1, doi. 10.1371/journal.pone.0277036
By:
- Lisboa, Rosany O.;
- Sekula, Raymond F.;
- Bezamat, Mariana;
- Deeley, Kathleen;
- Santana-da-Silva, Luiz Carlos;
- Vieira, Alexandre R.
Publication type:
Article
Mucopolysaccharidosis VI and effects on growth of the apical bases: a case report.
Published in:
2018
By:
- Ferreira dos Reis, Moema;
- Pinheiro, Lucas Rodrigues;
- Pinheiro, Maria das Graças Rodrigues;
- de Almeida, Haroldo Amorim;
- Feio, Patrícia do Socorro Queiroz;
- de Almeida, Sâmia Cordovil;
- de Souza, Isabel Cristina Neves;
- Giugliani, Roberto;
- Schwartz, Ida Vanessa Doederlein;
- Cavaleiro, Rosely Maria dos Santos;
- Pinheiro, João de Jesus Viana;
- da Silva, Luiz Carlos Santana
Publication type:
journal article
Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients.
Published in:
Genes, 2021, v. 12, n. 1, p. 20, doi. 10.3390/genes12010020
By:
- Tresbach, Rafael Hencke;
- Sperb-Ludwig, Fernanda;
- Ligabue-Braun, Rodrigo;
- Tonon, Tássia;
- de Oliveira Cardoso, Maria Teresinha;
- Heredia, Romina Soledad;
- da Silva Rosa, Maria Teresa Alves;
- Martins, Bárbara Cátia;
- Poubel, Monique Oliveira;
- da Silva, Luiz Carlos Santana;
- Maillot, François;
- Schwartz, Ida Vanessa Doederlein
Publication type:
Article

Found: 12