Hasil Pencarian - Carla Graziadio

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  1. 1
    Síndrome brânquio-óculo-facial (BOFS) e cardiopatias congênitas Síndrome branquio óculo facial (BOFS) y cardiopatías congénitas Branchio-oculo-facial syndrome (BOFS) and congenital heart defects

    Síndrome brânquio-óculo-facial (BOFS) e cardiopatias congênitas Síndrome branquio óculo facial (BOFS) y cardiopatías congénitas Branchio-oculo-facial syndrome (BOFS) and congenital... oleh Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Carla Graziadio, Giorgio Adriano Paskulin

    Diterbitkan 2009-02-01
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  2. 2
    Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome,

    Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome, oleh Ana Laura Andrade Bueno, Maria Emilia Vieira de Souza, Carla Graziadio, Ana Elisa Kiszewski

    Diterbitkan 2020-11-01
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  3. 3
    Type 1 diabetes in a patient with Ellis-van Creveld syndrome

    Type 1 diabetes in a patient with Ellis-van Creveld syndrome oleh Carla Graziadio, Pricila Bernardi, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin

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  4. 4
    New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival

    New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival oleh Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa, Rosana Cardoso Manique Rosa, Carla Graziadio, Giorgio Adriano Paskulin

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  5. 5
    Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association

    Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association oleh Pricila Bernardi, Carla Graziadio, Rafael Fabiano Machado Rosa, Juliana Nunes Pfeil, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin

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  6. 6
    Congenital glucose-galactose malabsorption: A case report about cause and consequence, not exactly in this order

    Congenital glucose-galactose malabsorption: A case report about cause and consequence, not exactly in this order oleh Rafaella Mergener, Marcela Rodrigues Nunes, Lívia Polisseni Cotta Nascimento, Victória Feitosa Muniz, Carla Graziadio, Paulo Ricardo Gazzola Zen

    Diterbitkan 2024-09-01
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  7. 7
    Central nervous system abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome) Anormalidades do sistema nervoso central em pacientes com espectro óculo-aurículo-vertebral (síndrome de Goldenhar)

    Central nervous system abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome) Anormalidades do sistema nervoso central em pacientes com espectro ócul... oleh Rafael Fabiano Machado Rosa, Carla Graziadio, Rene Lenhardt, Ronnie Peterson Marcondes Alves, Giorgio Adriano Paskulin, Paulo Ricardo Gazzola Zen

    Diterbitkan 2010-02-01
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  8. 8
    Craniofacial abnormalities among patients with Edwards Syndrome

    Craniofacial abnormalities among patients with Edwards Syndrome oleh Rafael Fabiano M. Rosa, Rosana Cardoso M. Rosa, Marina Boff Lorenzen, Paulo Ricardo G. Zen, Carla Graziadio, Giorgio Adriano Paskulin

    Diterbitkan 2013-09-01
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  9. 9
    Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion Distonia, doença autoimune e anormalidades da substância branca cerebral em paciente com deleção 18p

    Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion Distonia, doença autoimune e anormalidades da substância branca cerebral em paci... oleh Carla Graziadio, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Louise Lapagesse de Camargo Pinto, Liselotte Menke Barea, Giorgio Adriano Paskulin

    Diterbitkan 2009-09-01
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  10. 10
    Anormalidades cromossômicas em casais com história de aborto recorrente Chromosomal abnormalities in couples with history of recurrent abortion

    Anormalidades cromossômicas em casais com história de aborto recorrente Chromosomal abnormalities in couples with history of recurrent abortion oleh Andrea Kiss, Rafael Fabiano Machado Rosa, Raquel Papandreus Dibi, Paulo Ricardo Gazzola Zen, Juliana Nunes Pfeil, Carla Graziadio, Giorgio Adriano Paskulin

    Diterbitkan 2009-02-01
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  11. 11
    Screening for 22q11 deletion syndrome among patients with congenital heart defects

    Screening for 22q11 deletion syndrome among patients with congenital heart defects oleh Rafael Fabiano Machado Rosa, Rosana Cardoso Manique Rosa, Patrícia Trevisan, Carla Graziadio, Marileila Varella-Garcia, Giorgio Adriano Paskulin, Paulo Ricardo Gazzola Zen

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  12. 12
    Cytogenetic profile of patients with Down syndrome in southern Brazil

    Cytogenetic profile of patients with Down syndrome in southern Brazil oleh Patrícia Trevisan, Felipe Nora de Moraes, Vinicius Freitas de Mattos, Carla Graziadio, Rafael Fabiano Machado Rosa, Giorgio Adriano Paskulin, Paulo Ricardo Gazzola Zen

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  13. 13
    Amenorréia primária e cariótipo XY: identificando pacientes em risco Primary amenorrhea and XY karyotype: identifying patients in risk

    Amenorréia primária e cariótipo XY: identificando pacientes em risco Primary amenorrhea and XY karyotype: identifying patients in risk oleh Rafael Fabiano Machado Rosa, Raquel Papandreus Dibi, Nadima Vieira Toscani, Leonardo Leiria Moura da Silva, Paulo Ricardo Gazzola Zen, Carla Graziadio, Giorgio Adriano Paskulin

    Diterbitkan 2008-11-01
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  14. 14
    Amenorréia e anormalidades do cromossomo X Amenorrhea and X chromosome abnormalities

    Amenorréia e anormalidades do cromossomo X Amenorrhea and X chromosome abnormalities oleh Rafael Fabiano Machado Rosa, Raquel Papandreus Dibi, Jamile dos Santos Picetti, Rosana Cardoso Manique Rosa, Paulo Ricardo Gazzola Zen, Carla Graziadio, Giorgio Adriano Paskulin

    Diterbitkan 2008-10-01
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  15. 15
    Anormalidades de membros na trissomia do cromossomo 18: evidência para o diagnóstico precoce

    Anormalidades de membros na trissomia do cromossomo 18: evidência para o diagnóstico precoce oleh Rafael F. M. Rosa, Rosana Cardoso Manique Rosa, Marina Boff Lorenzen, Paulo R. G. Zen, Ceres A. V. de Oliveira, Carla Graziadio, Giorgio A. Paskulin

    Diterbitkan 2012-10-01
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  16. 16
    Trisomy 18 (Edwards syndrome) and major gastrointestinal malformations Trissomia do cromossomo 18 (síndrome de Edwards) e malformações gastrointestinais maiores

    Trisomy 18 (Edwards syndrome) and major gastrointestinal malformations Trissomia do cromossomo 18 (síndrome de Edwards) e malformações gastrointestinais maiores oleh Rafael Fabiano Machado Rosa, Rosana Cardoso Manique Rosa, Marina Boff Lorenzen, Paulo Ricardo Gazzola Zen, Ceres Andréia Vieira de Oliveira, Carla Graziadio, Giorgio Adriano Paskulin

    Diterbitkan 2013-04-01
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  17. 17
    Trisomy 18 (Edwards syndrome) and major gastrointestinal malformations

    Trisomy 18 (Edwards syndrome) and major gastrointestinal malformations oleh Rafael Fabiano Machado Rosa, Rosana Cardoso Manique Rosa, Marina Boff Lorenzen, Paulo Ricardo Gazzola Zen, Ceres Andréia Vieira de Oliveira, Carla Graziadio, Giorgio Adriano Paskulin

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  18. 18
    Applications of electron microscopy in health: the example of epidermolysis bullosa

    Applications of electron microscopy in health: the example of epidermolysis bullosa oleh Maiara A. Floriani, Ana Elisa K. Bau, Raquel P. Silva, Carla Graziadio, Luiza Emy Dorfman, Tatiana D. Zen, Rafael Fabiano M. Rosa, Paulo Ricardo G. Zen

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  19. 19
    Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report

    Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report oleh Rafael Fabiano Machado Rosa, Flávia Enk, Korine Camargo, Giovanni Marco Travi, André Freitas, Rosana Cardoso Manique Rosa, Carla Graziadio, Vinicius Freitas de Mattos, Paulo Ricardo Gazzola Zen

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  20. 20
    45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study

    45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study oleh Rafael Fabiano Machado Rosa, Willy Francisco Bartel D'Ecclesiis, Raquel Papandreus Dibbi, Rosana Cardoso Manique Rosa, Patrícia Trevisan, Carla Graziadio, Giorgio Adriano Paskulin, Paulo Ricardo Gazzola Zen

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