Sökresultat - Maria Isabel Melaragno

Förfina resultatet
  1. 1
    Cytogenetic study of women with premature ovarian failure

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

    Publicerad 1998
    Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  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 av Adriana Di‐Battista, Mariana Moysés‐Oliveira, Maria Isabel Melaragno

    Publicerad 2020
    Hämta fulltext Hämta fulltext
    Revisão
    Lägg till i favoriter
    Sparad:
  3. 3
    Mechanisms of structural chromosomal rearrangement formation

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

    Publicerad 2022
    Hämta fulltext Hämta fulltext
    Revisão
    Lägg till i favoriter
    Sparad:
  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 av Fernanda T. Bellucco, Cláudia Berlim de Mello, Vera Ayres Meloni, Maria Isabel Melaragno

    Publicerad 2019
    Hämta fulltext Hämta fulltext
    Revisão
    Lägg till i favoriter
    Sparad:
  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 av Kelin Chen, Malú Zamariolli, Maria de Fátima de Faria Soares, Vera Ayres Meloni, Maria Isabel Melaragno

    Publicerad 2021
    Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  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 av Síntia Belangero, Fernanda T. Bellucco, Mirlene Cecília Soares Pinho Cernach, April M. Hacker, Beverly S. Emanuel, Maria Isabel Melaragno

    Publicerad 2009
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  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 av Gianna Carvalheira, Mariana Moysés‐Oliveira, S.S. Takeno, Fernanda Teresa de Lima, Vera Ayres Meloni, Maria Isabel Melaragno

    Publicerad 2014
    Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  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 av Síntia Belangero, Fernanda T. Bellucco, Mirlene Cecília Soares Pinho Cernach, April M. Hacker, Beverly S. Emanuel, Maria Isabel Melaragno

    Publicerad 2009
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  9. 9
    Cytogenomic characterization of karyotypes with additional autosomal material

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

    Publicerad 2025
    Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  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 av Vera Ayres Meloni, S.S. Takeno, Ana Luiza Pilla, Cláudia Berlim de Mello, Maria Isabel Melaragno, Leslie Domenici Kulikowski

    Publicerad 2014
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  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 av Marga Nadal, C. G. VIGO, Maria Isabel Melaragno, Joyce Andrade, Luís Garcia Alonso, Décio Brunoni, Melanie Pritchard, Xavier Estivill

    Publicerad 2001
    Hämta fulltext
    Carta
    Lägg till i favoriter
    Sparad:
  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 av Síntia Belangero, Fernanda T.S. Bellucco, Leslie Domenici Kulikowski, Denise Maria Christofolini, Mirlene Cecília Soares Pinho Cernach, Maria Isabel Melaragno

    Publicerad 2009
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  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 av Roberta Santos Guilherme, Vera de FA Meloni, S.S. Takeno, Renata Pellegrino, Décio Brunoni, Leslie Domenici Kulikowski, Maria Isabel Melaragno

    Publicerad 2012
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  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. av Síntia Belangero, Fernanda T.S. Bellucco, Leslie Domenici Kulikowski, Denise Maria Christofolini, Mirlene Cecília Soares Pinho Cernach, Maria Isabel Melaragno

    Publicerad 2009
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  15. 15
    Allan-Herndon-Dudley syndrome in a female patient and related mechanisms

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

    Publicerad 2022
    Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  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 av Anelisa Gollo Dantas, Beatriz C. Nunes, Natália Nunes, Pedro A. F. Galante, Paula Fontes Asprino, Vanessa Kiyomi Ota, Maria Isabel Melaragno

    Publicerad 2024
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  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 av Denise Maria Christofolini, Fernando Santos Pinheiro, Bianca Bianco, Maria Isabel Melaragno, Marco A. Ramos, Décio Brunoni, Flavio Geraldes Alves, Caio Parente Barbosa

    Publicerad 2009
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  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 av T.I. Mancini, Mariana Moysés‐Oliveira, A.R.N. Dutra, Ana Beatriz Alvarez Pérez, Renata Moldenhauer Minillo, S.S. Takeno, Maria Isabel Melaragno

    Publicerad 2012
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  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 av Fernanda T. Bellucco, Hélio R. de Oliveira-Júnior, Roberta Santos Guilherme, Silvia Bragagnolo, Ana Beatriz Alvarez Pérez, Vera Ayres Meloni, Maria Isabel Melaragno

    Publicerad 2019
    Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  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 av Denise Maria Christofolini, Guilherme Pinn, Thainá Vilella, Maria Isabel Melaragno, Mariana Moysés‐Oliveira, Luciano de Melo Pompei, Bianca Bianco, Caio Parente Barbosa

    Publicerad 2025
    Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:

Sökverktyg: