Canlyniadau Chwilio - Maria Isabel Melaragno

Mireinio'r Canlyniadau
  1. 1
    Cytogenetic study of women with premature ovarian failure

    Cytogenetic study of women with premature ovarian failure gan Denise Pagni, Maria Isabel Melaragno

    Cyhoeddwyd 1998
    Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  2. 2
    Genetics of premature ovarian insufficiency and the association with X-autosome translocations

    Genetics of premature ovarian insufficiency and the association with X-autosome translocations gan Adriana Di‐Battista, Mariana Moysés‐Oliveira, Maria Isabel Melaragno

    Cyhoeddwyd 2020
    Cael y testun llawn Cael y testun llawn
    Revisão
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  3. 3
    Mechanisms of structural chromosomal rearrangement formation

    Mechanisms of structural chromosomal rearrangement formation gan Bruna Burssed, Malú Zamariolli, Fernanda T. Bellucco, Maria Isabel Melaragno

    Cyhoeddwyd 2022
    Cael y testun llawn Cael y testun llawn
    Revisão
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  4. 4
    Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing <i>NFIX</i> and <i>CACNA1A</i> genes: Case report and review of the literature

    Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing <i>NFIX</i> and <i>CACNA1A</i> genes: Case report and review of the literature gan Fernanda T. Bellucco, Cláudia Berlim de Mello, Vera Ayres Meloni, Maria Isabel Melaragno

    Cyhoeddwyd 2019
    Cael y testun llawn Cael y testun llawn
    Revisão
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  5. 5
    Multicentric Carpotarsal Osteolysis Syndrome in a Mother and Daughter with a &lt;b&gt;&lt;i&gt;MAFB&lt;/i&gt;&lt;/b&gt; Missense Variant and Natural History of the Disease

    Multicentric Carpotarsal Osteolysis Syndrome in a Mother and Daughter with a &lt;b&gt;&lt;i&gt;MAFB&lt;/i&gt;&lt;/b&gt; Missense Variant and Natural History of the Disease gan Kelin Chen, Malú Zamariolli, Maria de Fátima de Faria Soares, Vera Ayres Meloni, Maria Isabel Melaragno

    Cyhoeddwyd 2021
    Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  6. 6
    Interrupção do arco aórtico tipo B em uma paciente com síndrome de olho de gato

    Interrupção do arco aórtico tipo B em uma paciente com síndrome de olho de gato gan Síntia Belangero, Fernanda T. Bellucco, Mirlene Cecília Soares Pinho Cernach, April M. Hacker, Beverly S. Emanuel, Maria Isabel Melaragno

    Cyhoeddwyd 2009
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  7. 7
    19q13.33→qter trisomy in a girl with intellectual impairment and seizures

    19q13.33→qter trisomy in a girl with intellectual impairment and seizures gan Gianna Carvalheira, Mariana Moysés‐Oliveira, S.S. Takeno, Fernanda Teresa de Lima, Vera Ayres Meloni, Maria Isabel Melaragno

    Cyhoeddwyd 2014
    Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  8. 8
    Interrupção do arco aórtico tipo B em uma paciente com síndrome de olho de gato

    Interrupção do arco aórtico tipo B em uma paciente com síndrome de olho de gato gan Síntia Belangero, Fernanda T. Bellucco, Mirlene Cecília Soares Pinho Cernach, April M. Hacker, Beverly S. Emanuel, Maria Isabel Melaragno

    Cyhoeddwyd 2009
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  9. 9
    Cytogenomic characterization of karyotypes with additional autosomal material

    Cytogenomic characterization of karyotypes with additional autosomal material gan Priscila Soares Rodrigues, Bruna Burssed, Fernanda T. Bellucco, Débora Cristina Batista Rosolen, Chong Ae Kim, Maria Isabel Melaragno

    Cyhoeddwyd 2025
    Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  10. 10
    Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up

    Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up gan Vera Ayres Meloni, S.S. Takeno, Ana Luiza Pilla, Cláudia Berlim de Mello, Maria Isabel Melaragno, Leslie Domenici Kulikowski

    Cyhoeddwyd 2014
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  11. 11
    Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1->qter duplication

    Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1->qter duplication gan Marga Nadal, C. G. VIGO, Maria Isabel Melaragno, Joyce Andrade, Luís Garcia Alonso, Décio Brunoni, Melanie Pritchard, Xavier Estivill

    Cyhoeddwyd 2001
    Cael y testun llawn
    Carta
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  12. 12
    Deleção 22q11.2 em pacientes com defeito cardíaco conotruncal e fenótipo da síndrome da deleção 22q11.2

    Deleção 22q11.2 em pacientes com defeito cardíaco conotruncal e fenótipo da síndrome da deleção 22q11.2 gan Síntia Belangero, Fernanda T.S. Bellucco, Leslie Domenici Kulikowski, Denise Maria Christofolini, Mirlene Cecília Soares Pinho Cernach, Maria Isabel Melaragno

    Cyhoeddwyd 2009
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  13. 13
    Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report

    Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report gan Roberta Santos Guilherme, Vera de FA Meloni, S.S. Takeno, Renata Pellegrino, Décio Brunoni, Leslie Domenici Kulikowski, Maria Isabel Melaragno

    Cyhoeddwyd 2012
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  14. 14
    22q11.2 deletion in patients with conotruncal heart defect and del22q syndrome phenotype.

    22q11.2 deletion in patients with conotruncal heart defect and del22q syndrome phenotype. gan Síntia Belangero, Fernanda T.S. Bellucco, Leslie Domenici Kulikowski, Denise Maria Christofolini, Mirlene Cecília Soares Pinho Cernach, Maria Isabel Melaragno

    Cyhoeddwyd 2009
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  15. 15
    Allan-Herndon-Dudley syndrome in a female patient and related mechanisms

    Allan-Herndon-Dudley syndrome in a female patient and related mechanisms gan Caroline Olivati, Bianca Pereira Favilla, Erika Lopes Freitas, Bibiana Alves dos Santos, Maria Isabel Melaragno, Vera Ayres Meloni, Flávia Piazzon

    Cyhoeddwyd 2022
    Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  16. 16
    Next-generation sequencing profiling of miRNAs in individuals with 22q11.2 deletion syndrome revealed altered expression of miR-185-5p

    Next-generation sequencing profiling of miRNAs in individuals with 22q11.2 deletion syndrome revealed altered expression of miR-185-5p gan Anelisa Gollo Dantas, Beatriz C. Nunes, Natália Nunes, Pedro A. F. Galante, Paula Fontes Asprino, Vanessa Kiyomi Ota, Maria Isabel Melaragno

    Cyhoeddwyd 2024
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  17. 17
    Síndrome de tremor e ataxia associada ao X frágil: rastreamento por PCR em amostra de idosos

    Síndrome de tremor e ataxia associada ao X frágil: rastreamento por PCR em amostra de idosos gan Denise Maria Christofolini, Fernando Santos Pinheiro, Bianca Bianco, Maria Isabel Melaragno, Marco A. Ramos, Décio Brunoni, Flavio Geraldes Alves, Caio Parente Barbosa

    Cyhoeddwyd 2009
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  18. 18
    Interstitial 4q Deletion and Isodicentric Y-Chromosome in a Patient with Dysmorphic Features

    Interstitial 4q Deletion and Isodicentric Y-Chromosome in a Patient with Dysmorphic Features gan T.I. Mancini, Mariana Moysés‐Oliveira, A.R.N. Dutra, Ana Beatriz Alvarez Pérez, Renata Moldenhauer Minillo, S.S. Takeno, Maria Isabel Melaragno

    Cyhoeddwyd 2012
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  19. 19
    Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype

    Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype gan Fernanda T. Bellucco, Hélio R. de Oliveira-Júnior, Roberta Santos Guilherme, Silvia Bragagnolo, Ana Beatriz Alvarez Pérez, Vera Ayres Meloni, Maria Isabel Melaragno

    Cyhoeddwyd 2019
    Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  20. 20
    Compound Heterozygous Variants in <scp><i>ZSWIM7</i></scp> Gene Linked to Infertility and Its Role in Gonadal Development

    Compound Heterozygous Variants in <scp><i>ZSWIM7</i></scp> Gene Linked to Infertility and Its Role in Gonadal Development gan Denise Maria Christofolini, Guilherme Pinn, Thainá Vilella, Maria Isabel Melaragno, Mariana Moysés‐Oliveira, Luciano de Melo Pompei, Bianca Bianco, Caio Parente Barbosa

    Cyhoeddwyd 2025
    Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:

Offerynnau Chwilio: