Mowat-Wilson Syndrome

by Steiner,Carlos Eduardo
Published 2015

Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas, Brazil

by Kozuki,Cristiano Guimarães, Steiner,Carlos Eduardo
Published 2015

Christine Hackel (1955-2013)

by Steiner,Carlos Eduardo, Cavalcanti,Denise Pontes
Published 2014

Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders

by Steiner,Carlos Eduardo, Guerreiro,Marilisa Mantovani, Marques-de-Faria,Antonia Paula
Published 2003

Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review

by Steiner,Carlos Eduardo, Cintra,Maria Letícia, Marques-de-Faria,Antonia Paula
Published 2005

Laboratorial diagnosis of fragile-X syndrome: experience in a sample of individuals with pervasive developmental disorders

by Steiner,Carlos Eduardo, Guerreiro,Marilisa Mantovani, Marques-de-Faria,Antonia Paula, Lopes-Cendes,Iscia
Published 2005

Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior

by Steiner,Carlos Eduardo, Acosta,Angelina Xavier, Guerreiro,Marilisa Mantovani, Marques-de-Faria,Antonia Paula
Published 2007

Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome

by Oliveira,Gisele Viana de, Steiner,Carlos Eduardo, Cintra,Maria Letícia, Marques-de-Faria,Antonia Paula
Published 2003

Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib

by Carlin,Marcelo Paschoalete, Scherrer,Daniel Zanetti, Tommaso,Adriana Maria Alves De, Bertuzzo,Carmen Silvia, Steiner,Carlos Eduardo
Published 2013

Ocular findings in Brazilian identical twins with Cohen syndrome: case report

by Rim,Priscila Hae Hyun, Figueirêdo,Eugênio Santana de, Hirata,Fabio Endo, Steiner,Carlos Eduardo, Marques-de-Faria,Antonia Paula
Published 2009

Anthropometric and body-mass composition suggests an intrinsic feature in Williams-Beuren syndrome

by Nogueira,Roberto José Negrão, Zimmerman,Leonardo Ferreira, Moreno,Yara Maria Franco, Comparini,Cláudia Regina, Viana,Danilo Vilela, Vieira,Tarsis Antonio Paiva, Steiner,Carlos Eduardo, Gil-da-Silva-Lopes,Vera Lúcia
Published 2011

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network

by Dornelles,Alícia Dorneles, Pinto,Louise Lapagesse de Camargo, Paula,Ana Carolina de, Steiner,Carlos Eduardo, Lourenço,Charles Marques, Kim,Chong Ae, Horovitz,Dafne Dain Gandelman, Ribeiro,Erlane Marques, Valadares,Eugênia Ribeiro, Goulart,Isabela, Souza,Isabel C. Neves de, Neri,João Ivanildo da Costa, Santana-da-Silva,Luiz Carlos, Silva,Luiz Roberto, Ribeiro,Márcia, Oliveira Sobrinho,Ruy Pires de, Giuglianiand,Roberto, Schwartz,Ida Vanessa Doederlein
Published 2014