Showing 1 - 3 results of 3 for search 'Natalie Hauser', query time: 0.03s Refine Results
  1. 1
    P340: Jaberi-Elahi syndrome caused by maternal UPD 6 resulting in homozygous variants from a heterozygous parent

    P340: Jaberi-Elahi syndrome caused by maternal UPD 6 resulting in homozygous variants from a heterozygous parent by Gabriella Perry, Jessica Merberg, Luis Gomez, Ankit Shah, Natalie Hauser

    Published 2024-01-01
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  2. 2
    Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants

    Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants by Megan S. Kane, Callie J. Diamonstein, Natalie Hauser, John F. Deeken, John E. Niederhuber, Thierry Vilboux

    Published 2019-03-01
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    Article
  3. 3
    Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis

    Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis by Donna B. Raval, Kristina P. Cusmano-Ozog, Omar Ayyub, Callie Jenevein, Laura H. Kofman, Brendan Lanpher, Natalie Hauser, Debra S. Regier

    Published 2017-03-01
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