Search Results - Bafallíu, Juan Antonio

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  1. 1
    Rapp–Hodgkin syndrome and SHFM1 patients: Delineating the p63–Dlx5/Dlx6 pathway

    Rapp–Hodgkin syndrome and SHFM1 patients: Delineating the p63–Dlx5/Dlx6 pathway by Vera-Carbonell, Ascensión, Moya-Quiles, María Rosa, Ballesta-Martínez, María, López-González, Vanesa, Bafallíu, Juan Antonio, Guillén-Navarro, Encarna, López-Expósito, Isabel

    Published in Gene
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  2. 2
    Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies

    Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies by Vera-Carbonell, Ascensión, López-González, Vanesa, Bafalliu, Juan Antonio, Ballesta-Martínez, María J, Fernández, Asunción, Guillén-Navarro, Encarna, López-Expósito, Isabel

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  3. 3
    Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement

    Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement by López-Expósito, Isabel, Ballesta-Martinez, María Juliana, Bafalliu, Juan Antonio, Vera-Carbonell, Ascensión, Domingo-Jiménez, Rosario, López-González, Vanesa, Fernández, Asunción, Guillén-Navarro, Encarna

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  4. 4
    Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with san luis valley syndrome

    Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with san luis valley syndrome by Vera-Carbonell, Ascensión, López-González, Vanesa, Bafalliu, Juan Antonio, Piñero-Fernández, Juan, Susmozas, Joaquín, Sorli, Moisés, López-Pérez, Rocío, Fernández, Asunción, Guillén-Navarro, Encarna, López-Expósito, Isabel

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  5. 5
    Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement

    Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement by Vera-Carbonell, Ascensión, López-Expósito, Isabel, Bafalliu, Juan Antonio, Ballesta-Martínez, María, Glóver, Guillermo, Llópis, Carina, Moya-Quiles, Rosa, Suela, Javier, Fernández, Asunción, Guillén-Navarro, Encarna

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  6. 6
    Characterization of a de novo complex chromosomal rearrangement in a patient with cri‐du‐chat and trisomy 5p syndromes

    Characterization of a de novo complex chromosomal rearrangement in a patient with cri‐du‐chat and trisomy 5p syndromes by Vera‐Carbonell, Ascensión, Bafalliu, Juan Antonio, Guillén‐Navarro, Encarna, Escalona, Ariadna, Ballesta‐Martínez, María J., Fuster, Carme, Fernández, Asunción, López‐Expósito, Isabel

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  7. 7
    HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases

    HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases by Martínez-Romero, María Carmen, Hernández-Contreras, María Encarnación, Bafalliu-Vidal, Juan Antonio, Barreda-Sánchez, María, Martínez-Menchón, Teresa, Cabello-Chaves, Virginia, Guillén-Navarro, Encarna

    Published in Genes
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  8. 8
    Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect

    Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect by López‐Expósito, Isabel, Bafalliu, Juan Antonio, Santos, Mónica, Fuster, Carme, Puche‐Mira, Alberto, Guillén‐Navarro, Encarna

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  9. 9
    Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect

    Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect by López-Expósito, Isabel, Bafalliu, Juan Antonio, Santos, Mónica, Fuster, Carme, Puche-Mira, Alberto, Guillén-Navarro, Encarna

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  10. 10
    Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes

    Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes by Vera-Carbonell, Ascensión, Bafalliu, Juan Antonio, Guillén-Navarro, Encarna, Escalona, Ariadna, Ballesta-Martínez, María J., Fuster, Carme, Fernández, Asunción, López-Expósito, Isabel

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