Hasil Pencarian - April Lehman

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  1. 1
    P330: Gabriele-de Vries syndrome: Exploring the phenotype of a recently described genetic disorder

    P330: Gabriele-de Vries syndrome: Exploring the phenotype of a recently described genetic disorder oleh Mariane Tomiyoshi Asato, April Lehman, Kara Pappas, Andrea Wilhelm

    Diterbitkan 2023-01-01
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  2. 2
    P025: Characterization of a silent variant in a neonate with presentation of clinical variant classic galactosemia

    P025: Characterization of a silent variant in a neonate with presentation of clinical variant classic galactosemia oleh Mari Mori, April Lehman, Mackenzie Marr, Rebecca Youngs, Kandamurugu Manickam

    Diterbitkan 2024-01-01
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  3. 3
    P039: Retrospective evaluation of amino acid ratios for screening and diagnostic utility for pyruvate dehydrogenase complex deficiency (PDCD) and other mitochondrial disorders (MtDs)*

    P039: Retrospective evaluation of amino acid ratios for screening and diagnostic utility for pyruvate dehydrogenase complex deficiency (PDCD) and other mitochondrial disorders (MtD... oleh Anisha Verma, April Lehman, Lorna Cropcho, Danielle Black, Steven Dobrowolski, Jerry Vockley, Jirair Bedoyan

    Diterbitkan 2023-01-01
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  4. 4
    Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects

    Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and... oleh Jirair K. Bedoyan, Rosemary Hage, Ha Kyung Shin, Sharon Linard, Edwin Ferren, Nicole Ducich, Kirkland Wilson, April Lehman, Lori‐Anne Schillaci, Kandamurugu Manickam, Mari Mori, Dennis Bartholomew, Suzanne DeBrosse, Bruce Cohen, Sumit Parikh, Douglas Kerr

    Diterbitkan 2020-11-01
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  5. 5
    Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan’s Project Baby Deer

    Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan’s Project Baby Deer oleh Caleb P. Bupp, Elizabeth G. Ames, Madison K. Arenchild, Sara Caylor, David P. Dimmock, Joseph D. Fakhoury, Padmani Karna, April Lehman, Cristian I. Meghea, Vinod Misra, Danielle A. Nolan, Jessica O’Shea, Aditi Sharangpani, Linda S. Franck, Andrea Scheurer-Monaghan

    Diterbitkan 2023-01-01
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