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  1. 1
    Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition

    Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal r... by Kimberly M. Ezell, Yutaka Furuta, Devin Oglesbee, Eniko K. Pivnick, David Rinker, Jonathan H. Sheehan, Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Lynette Rives, Serena Neumann, Brian Corner, Mary Koziura, John A. Phillips, III

    Published 2024-12-01
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  2. 2
    P460: Case series of Nizon-Isidor syndrome by heterozygous variants in MED12L with one case generating chromosomal instability through diploid-triploid mosaicism

    P460: Case series of Nizon-Isidor syndrome by heterozygous variants in MED12L with one case generating chromosomal instability through diploid-triploid mosaicism by Russell Stewart, Kimberly Ezell, Brian Corner, Ashley McMinn, Joy Cogan, Rizwan Hamid, Lynette Rives, John Phillips, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah Ladha, Claudia Soler-Alfonso, Rachel Franciskovich, Mary Koziura, Deanna Bell, Sumit Pruthi, Thomas Cassini

    Published 2025-01-01
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