Hasil Pencarian - Danica Novacic

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  1. 1
    P258: PPA2 deficiency phenotype

    P258: PPA2 deficiency phenotype oleh Danica Novacic, William Gahl, Johan Van Hove, Marisa W. Friederich, Dana Strode, Roxanne Van Hove

    Diterbitkan 2023-01-01
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  2. 2
    Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B

    Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B oleh Howard J. Li, Catherine Groden, Melanie P. Hoenig, Evan C. Ray, Carlos R. Ferreira, Willam Gahl, Danica Novacic

    Diterbitkan 2019-09-01
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  3. 3
    Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

    Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability oleh Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A deMoura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls

    Diterbitkan 2023-05-01
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