Browsing by Author Steiner, Carlos Eduardo

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PreviewIssue DateTitleAuthor(s)AdvisorType
1-Sep-2005Laboratorial diagnosis of fragile-X syndrome: experience in a sample of individuals with pervasive developmental disordersSteiner, Carlos Eduardo; Guerreiro, Marilisa Mantovani; Marques-de-Faria, Antonia Paula; Lopes-Cendes, Iscia-Artigo de periódico
1-Jun-2003Genetic and neurological evaluation in a sample of individuals with pervasive developmental disordersSteiner, Carlos Eduardo; Guerreiro, Marilisa Mantovani; Marques-de-Faria, Antonia Paula-Artigo de periódico
1-Jun-2007Genotype and natural history in unrelated individual with phenylketonuria and autistic behaviorSteiner, Carlos Eduardo; Acosta, Angelina Xavier; Guerreiro, Marilisa Mantovani; Marques-de-Faria, Antonia Paula-Artigo de periódico
2015Mowat-wilson Syndrome.Steiner, Carlos Eduardo-Editorial
1-Jan-2003Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndromeOliveira, Gisele Viana de; Steiner, Carlos Eduardo; Cintra, Maria Letícia; Marques-de-Faria, Antonia Paula-Artigo de periódico
1-Jan-2005Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature reviewSteiner, Carlos Eduardo; Cintra, Maria Letícia; Marques-de-Faria, Antonia Paula-Artigo de periódico
1-Dec-2011Anthropometric and body-mass composition suggests an intrinsic feature in Williams-Beuren syndromeNogueira, 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-Artigo de periódico
-1-Uns- -1What Syndrome Is This? Oculocerebral Hypopigmentation Syndrome Of Preus.de Oliveira Sobrinho, Ruy Pires; Steiner, Carlos Eduardo-Artigo de periódico
2015Clinical Findings And Natural History In Ten Unrelated Families With Juvenile And Adult Gm1 Gangliosidosis.Kannebley, João Stein; Silveira-Moriyama, Laura; Bastos, Laís Orrico Donnabella; Steiner, Carlos Eduardo-Artigo de periódico
2015De Novo Double Reciprocal Translocations In Addition To Partial Monosomy At Another Chromosome: A Very Rare Case.Simioni, Milena; Steiner, Carlos Eduardo; Gil-da-Silva-Lopes, Vera Lúcia-Artigo de periódico
1-Jan-2014Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil NetworkDornelles, 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-Artigo de periódico
1-Dec-2009Ocular findings in Brazilian identical twins with Cohen syndrome: case reportRim, Priscila Hae Hyun; Figueirêdo, Eugênio Santana de; Hirata, Fabio Endo; Steiner, Carlos Eduardo; Marques-de-Faria, Antonia Paula-Artigo de periódico
-1-Uns- -1Anthropometric And Body-mass Composition Suggests An Intrinsic Feature In Williams-beuren Syndrome.Nogueira, Roberto José Negrão; Zimmerman, Leonardo Ferreira; Moreno, Yara Maria Franco; Comparini, Cláudia Regina; Viana, Danilo Viela; Vieira, Tarsis Antonio Paiva; Steiner, Carlos Eduardo; Gil-da-Silva-Lopes, Vera Lúcia-Artigo de periódico
2004Brief Report: Acrocallosal Syndrome And Autism.Steiner, Carlos Eduardo; Guerreiro, Marilisa Mantovani; Marques-de-Faria, Antonia Paula-Artigo de periódico
2002Ectodermal Dysplasia With Acanthosis Nigricans (lelis Syndrome).Steiner, Carlos Eduardo; Cintra, Maria Letícia; Marques-de-Faria, Antonia Paula-Artigo de periódico
2003Genetic And Neurological Evaluation In A Sample Of Individuals With Pervasive Developmental Disorders.Steiner, Carlos Eduardo; Guerreiro, Marilisa Mantovani; Marques-de-Faria, Antonia Paula-Artigo de periódico
2007Molecular Genetics Study Of Deafness In Brazil: 8-year Experience.de Oliveira, Camila Andréa; Alexandrino, Fabiana; Christiani, Thalita Vitachi; Steiner, Carlos Eduardo; Cunha, José Luiz Rosemberis; Guerra, Andréa Trevas Maciel; Sartorato, Edi Lúcia-Artigo de periódico
-1-Uns- -1Ocular Findings In Brazilian Identical Twins With Cohen Syndrome: Case Report.Rim, Priscila Hae Hyun; Figueirêdo, Eugênio Santana de; Hirata, Fabio Endo; Steiner, Carlos Eduardo; Marques-de-Faria, Antonia Paula-Artigo de periódico
2005Laboratorial Diagnosis Of Fragile-x Syndrome: Experience In A Sample Of Individuals With Pervasive Developmental Disorders.Steiner, Carlos Eduardo; Guerreiro, Marilisa Mantovani; Marques-de-Faria, Antonia Paula; Lopes-Cendes, Iscia-Artigo de periódico
2007Genotype And Natural History In Unrelated Individuals With Phenylketonuria And Autistic Behavior.Steiner, Carlos Eduardo; Acosta, Angelina Xavier; Guerreiro, Marilisa Mantovani; Marques-de-Faria, Antonia Paula-Artigo de periódico