Treffer 1 - 7 von 7 für Suche 'Ali, Taccyanna M.', Suchdauer: 0,37s Treffer weiter einschränken
  1. 1
    Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface

    Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface von Martins, Luciane, Lessa, Luis Gustavo F, Ali, Taccyanna M, Lazar, Monize, Kim, Chong A, Kantovitz, Kamila R, Santamaria, Mauro P, Araújo, Cássia F, Ramos, Carolina J, Foster, Brian L, Franco, José Francisco S, Bertola, Débora, Nociti, Jr, Francisco H


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  2. 2
    Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report

    Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report von Ali, Taccyanna M., Mateu-Brull, Emilia, Balaguer, Nuria, Dantas, Camila, Borges, Haline Risso, de Oliveira, Mariana Quintans Guerra, Rodrigo, Lorena, Campos-Galindo, Inmaculada, Navarro, Roser, Milan, Miguel


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  3. 3
    The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non‐Morrocan ancestry

    The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non‐Morrocan ancestry von Ali, Taccyanna M., Linnenkamp, Bianca D. W., Yamamoto, Guilherme L., Honjo, Rachel S., Cabral de Menezes Filho, Hamilton, Kim, Chong Ae, Bertola, Débora R.


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  4. 4
    Balanced chromosomal rearrangement in a partner revealed after Preimplantation Genetic Testing for Aneuploidies (PGT-A)

    Balanced chromosomal rearrangement in a partner revealed after Preimplantation Genetic Testing for Aneuploidies (PGT-A) von Ceschin, Ianaê, Ali, Taccyanna M, Carvalho, Cristina V, Martins, Caique, Bos-Mikich, Adriana, Andrade, Gabriella M, Frantz, Nilo

    Veröffentlicht in JBRA assisted reproduction

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  5. 5
    Balanced chromosomal rearrangement in a partner revealed after Preimplantation Genetic Testing for Aneuploidies (PGT-A)

    Balanced chromosomal rearrangement in a partner revealed after Preimplantation Genetic Testing for Aneuploidies (PGT-A) von Ceschin, Ianaê, Ali, Taccyanna M, Carvalho, Cristina V, Martins, Caique, Bos-Mikich, Adriana, Andrade, Gabriella M, Frantz, Nilo

    Veröffentlicht in JBRA assisted reproduction

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  6. 6
    The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry

    The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry von Ali, Taccyanna M, Linnenkamp, Bianca D W, Yamamoto, Guilherme L, Honjo, Rachel S, Cabral de Menezes Filho, Hamilton, Kim, Chong Ae, Bertola, Débora R


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  7. 7
    Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface

    Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface von Martins, Luciane, Lessa, Luis Gustavo F, Ali, Taccyanna M, Lazar, Monize, Kim, Chong A, Kantovitz, Kamila R, Santamaria, Mauro P, Araújo, Cássia F, Ramos, Carolina J, Foster, Brian L, Franco, José Francisco S, Bertola, Débora, Nociti, Francisco H


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