Showing 1 - 2 results of 2 for search 'Laura Trujillano', query time: 0.02s Refine Results
  1. 1
    Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome

    Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome by Marta Gil-Salvador, Laura Trujillano, Cristina Lucia-Campos, Julia Del Rincón, Pilar Pamplona, María Arnedo, Beatriz Puisac, Íñigo Marcos-Alcalde, Paulino Gómez-Puertas, Feliciano J. Ramos, Juan Pié, Ana Latorre-Pellicer

    Published 2025-07-01
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  2. 2
    O32: ANKRD17-related neurodevelopmental syndrome (Chopra-Amiel-Gordon syndrome): Further characterization and emerging genotype-phenotype correlations

    O32: ANKRD17-related neurodevelopmental syndrome (Chopra-Amiel-Gordon syndrome): Further characterization and emerging genotype-phenotype correlations by Muhammed Cagri Bayraktutan, Abigail Sveden, Raymond Belanger, Ellen Hanson, Jack Murray, Edward Yang, Jada Cameron, Elizabeth Buttermore, Dustin Gable, Kellen Winden, Celia Tam, Vikram Prakash, Laura Trujillano, Himanshu Goel, Charlotte von der Lippe, Amelle Shillington, Yvan Herenger, Britton Zuccarelli, Linda Rosetti, Kendra Engleman, Tinatin Tkemaladze, Robert Maiwald, Amaia Lasa Aranzasti, Christopher Barnett, Marco Tartaglia, Seema Lalani, Wen-Hann Tan, Jeanne Amiel, Christopher Gordon, Mustafa Sahin, Maya Chopra

    Published 2025-01-01
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