Search Results - Ezquina, Suzana A M

  • Showing 1 - 6 results of 6
Refine Results
  1. 1
    Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome

    Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome by Romanelli Tavares, Vanessa L., Zechi‐Ceide, Roseli M., Bertola, Debora R., Gordon, Christopher T., Ferreira, Simone G., Hsia, Gabriella S. P., Yamamoto, Guilherme L., Ezquina, Suzana A. M., Kokitsu‐Nakata, Nancy M., Vendramini‐Pittoli, Siulan, Freitas, Renato S., Souza, Josiane, Raposo‐Amaral, Cesar A., Zatz, Mayana, Amiel, Jeanne, Guion‐Almeida, Maria L., Passos‐Bueno, Maria Rita

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  2. 2
    Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases

    Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases by Carneiro, Thaise Nr, Krepischi, Ana Cv, Costa, Silvia S, Tojal da Silva, Israel, Vianna-Morgante, Angela M, Valieris, Renan, Ezquina, Suzana Am, Bertola, Debora R, Otto, Paulo A, Rosenberg, Carla

    Get full text
    Items that cite this one
    Article
    Save to List
    Saved in:
  3. 3
    Development of a comprehensive noninvasive prenatal test

    Development of a comprehensive noninvasive prenatal test by Malcher, Carolina, Yamamoto, Guilherme L, Burnham, Philip, Ezquina, Suzana A M, Lourenço, Naila C V, Balkassmi, Sahilla, Antonio, David S Marco, Hsia, Gabriella S P, Gollop, Thomaz, Pavanello, Rita C, Lopes, Marco Antonio, Bakker, Egbert, Zatz, Mayana, Bertola, Débora, Vlaminck, Iwijn De, Passos-Bueno, Maria Rita

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  4. 4
    Rare germline genetic variation in PAX8 transcription factor binding sites and susceptibility to epithelial ovarian cancer

    Rare germline genetic variation in PAX8 transcription factor binding sites and susceptibility to epithelial ovarian cancer by Ezquina, Suzana A M, Jones, Michelle, Dicks, Ed, de Vries, Amber, Peng, Pei-Chen, Lawrenson, Kate, Corona, Rosario I, Tyrer, Jonathan, Hazelett, Dennis, Brenton, James, Antoniou, Antonis, Gayther, Simon A, Pharoah, Paul D P

    Get full text
    Article
    Save to List
    Saved in:
  5. 5
    Santos syndrome is caused by mutation in the WNT7A gene

    Santos syndrome is caused by mutation in the WNT7A gene by Alves, Leandro U, Santos, Silvana, Musso, Camila M, Ezquina, Suzana Am, Opitz, John M, Kok, Fernando, Otto, Paulo A, Mingroni-Netto, Regina C

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  6. 6
    Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing

    Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing by Ferreira, Pedro G., Oti, Martin, Barann, Matthias, Wieland, Thomas, Ezquina, Suzana, Friedländer, Marc R., Rivas, Manuel A., Esteve-Codina, Anna, Rosenstiel, Philip, Strom, Tim M, Lappalainen, Tuuli, Guigó, Roderic, Sammeth, Michael

    Published in Scientific reports
    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:

Search Tools: