Søgeresultater - Carlos Eduardo Steiner

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  1. 1
    Mowat-Wilson Syndrome

    Mowat-Wilson Syndrome af Carlos Eduardo Steiner

    Udgivet 2015
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    Editorial
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  2. 2
    A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14

    A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14 af Carlos Eduardo Steiner

    Udgivet 2004
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    Artigo
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  3. 3
    Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas, Brazil

    Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas, Brazil af Cristiano Guimarães Kozuki, Carlos Eduardo Steiner

    Udgivet 2015
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    Artigo
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  4. 4
    Re: “Molecular analysis of 9 unrelated families presenting with juvenile and chronic GM1 gangliosidosis”

    Re: “Molecular analysis of 9 unrelated families presenting with juvenile and chronic GM1 gangliosidosis” af Carlos Eduardo Steiner, Luciana Cardoso Bonadia

    Udgivet 2024
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    Artigo
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  5. 5
    Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders

    Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders af Carlos Eduardo Steiner, Marilisa M. Guerreiro, Antonia Paula Marques‐de‐Faria

    Udgivet 2003
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    Artigo
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  6. 6
    Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review

    Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review af Carlos Eduardo Steiner, Maria Letícia Cintra, Antonia Paula Marques‐de‐Faria

    Udgivet 2005
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    Revisão
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  7. 7
    Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis

    Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis af Marcella Bergamini de Baptista, Daniel Zanetti Scherrer, Luciana Cardoso Bonadia, Carlos Eduardo Steiner

    Udgivet 2016
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    Artigo
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  8. 8
    Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis

    Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis af João Stein Kannebley, Laura Silveira‐Moriyama, Laís Orrico Donnabella Bastos, Carlos Eduardo Steiner

    Udgivet 2015
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    Artigo
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  9. 9
    Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior

    Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior af Carlos Eduardo Steiner, Angelina Xavier Acosta, Marilisa M. Guerreiro, Antonia Paula Marques‐de‐Faria

    Udgivet 2007
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    Artigo
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  10. 10
    Laboratorial diagnosis of fragile-X syndrome: experience in a sample of individuals with pervasive developmental disorders

    Laboratorial diagnosis of fragile-X syndrome: experience in a sample of individuals with pervasive developmental disorders af Carlos Eduardo Steiner, Marilisa M. Guerreiro, Antonia Paula Marques‐de‐Faria, Íscia Lopes‐Cendes

    Udgivet 2005
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    Artigo
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  11. 11
    Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome

    Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome af Gisele Viana de Oliveira, Carlos Eduardo Steiner, Maria Letícia Cintra, Antonia Paula Marques‐de‐Faria

    Udgivet 2003
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    Artigo
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  12. 12
    Medical Costs Related to Enzyme Replacement Therapy for Mucopolysaccharidosis Types I, II, and VI in Brazil: A Multicenter Study

    Medical Costs Related to Enzyme Replacement Therapy for Mucopolysaccharidosis Types I, II, and VI in Brazil: A Multicenter Study af Fernanda Bender, Taiane Alves Vieira, Carlos Eduardo Steiner, Jordão Corrêa Neto, Raquel Boy, Ida Vanessa Döederlein Schwartz

    Udgivet 2015
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    Artigo
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  13. 13
    Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib

    Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib af Marcelo Paschoalete Carlin, Daniel Zanetti Scherrer, Adriana María Alves De Tommaso, Carmen Sílvia Bertuzzo, Carlos Eduardo Steiner

    Udgivet 2013
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    Artigo
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  14. 14
    Clinical and molecular characteristics of a Brazilian family with spinocerebellar ataxia type 1

    Clinical and molecular characteristics of a Brazilian family with spinocerebellar ataxia type 1 af Íscia Lopes‐Cendes, Carlos Eduardo Steiner, Isabel Silveira, Walter Pinto-Júnior, Jayme Antunes Maciel, Guy A. Rouleau

    Udgivet 1996
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  15. 15
    Cognitive and behavioral heterogeneity in genetic syndromes

    Cognitive and behavioral heterogeneity in genetic syndromes af Luiz Fernando Pegoraro, Carlos Eduardo Steiner, Eloísa Helena Rubello Valler Celeri, Cláudio E. M. Banzato, Paulo Dalgalarrondo

    Udgivet 2013
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  16. 16
    <p>Clinical and Molecular Investigation of Familial Multiple Lipomatosis: Variants in the <em>HMGA2</em> Gene</p>

    <p>Clinical and Molecular Investigation of Familial Multiple Lipomatosis: Variants in the <em>HMGA2</em> Gene</p> af Diana Marcela Mejía Granados, Marcella Bergamini de Baptista, Luciana Cardoso Bonadia, Carmen Sílvia Bertuzzo, Carlos Eduardo Steiner

    Udgivet 2020
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  17. 17
    Cognitive and behavioral heterogeneity in genetic syndromes

    Cognitive and behavioral heterogeneity in genetic syndromes af Luiz Fernando Pegoraro, Carlos Eduardo Steiner, Eloísa Helena Rubello Valler Celeri, Cláudio E. M. Banzato, Paulo Dalgalarrondo

    Udgivet 2014
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  18. 18
    Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing

    Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing af Rafael de Marchi, Tatiéle Nalin, Fernanda Sperb‐Ludwig, Franciele Cabral Pinheiro, Ida Vanessa Döederlein Schwartz, Carlos Eduardo Steiner

    Udgivet 2023
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    Carta
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  19. 19
    Ocular findings in Brazilian identical twins with Cohen syndrome: case report

    Ocular findings in Brazilian identical twins with Cohen syndrome: case report af Priscila Hae Hyun Rim, Eugênio Santana de Figueirêdo, Fábio Endo Hirata, Carlos Eduardo Steiner, Antonia Paula Marques‐de‐Faria

    Udgivet 2009
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  20. 20
    Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2

    Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2 af Daniel Zanetti Scherrer, Marcella Bergamini de Baptista, Alexandre Hilário Berenguer de Matos, Cláudia Vianna Maurer‐Morelli, Carlos Eduardo Steiner

    Udgivet 2013
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