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Tesis

Analisis short tandem repeat gen TPP1 pada keluarga penderita neuronal ceroid lipofuscinosis tipe 2 sebagai persiapan preimplantation genetic diagnosis
2022 | BY Klara Yuliarti - Yulia Ariani - Bobby Pambudi - damayanti R. Sjarif
  • Short tandem repeat analysis of TPP1 gene on families of type 2 neuronal ceroid lipofuscinosis patients as preparation for preimplantation genetic diagnosis.
  • Nomor Panggil T22187fk
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Tesis

Gambaran klinis, laboratoris, dan mutasi gen SLC25A13 pada bayi berusia 0 – 1 tahun dengan neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
2017 | BY Fatima Safira Alatas - Ina S Timan - Klara Yuliarti - Lanny Christine Gultom - M. F. Conny Tanjung - Damayanti R Sjarif
  • Clinical, laboratory, and SLC25A13 gene mutation profiles of infants aged 0 – 1 year old with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).
  • Nomor Panggil T17450fk