Showing 1 - 5 results of 5 for search 'María E. Hernández', query time: 0.02s
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Three Siblings With an Attenuated Presentation of Perlman Syndrome: A Case Report and Literature Review by Alayne P. Meyer, Daniel C. Koboldt, Swetha Ramadesikan, Kristin Zajo, Maria E. Hernandez Gonzalez, Anthony R. Miller, Douglas Depoorter, Catherine P. Comer, James I. Geller, Katherine Somers, Nilay Shah, Marco L. Leung
Published 2025-07-01Get full text
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Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes by Iftekhar A. Showpnil, Maria E. Hernandez Gonzalez, Swetha Ramadesikan, Mohammad Marhabaie, Allison Daley, Leeran Dublin-Ryan, Matthew T. Pastore, Umamaheswaran Gurusamy, Jesse M. Hunter, Brandon S. Stone, Dennis W. Bartholomew, Kandamurugu Manickam, Anthony R. Miller, Richard K. Wilson, Rolf W. Stottmann, Daniel C. Koboldt
Published 2024-12-01Get full text
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