Predictor of Liver Biochemistry Improvement in Patients with Cytomegalovirus Cholestasis after Ganciclovir Treatment

por Puspita, Gina, Widowati, Titis, Triono, Agung
Publicado 2022

Phenotypes of a female patient with novel de novo frameshift ARX variant identified by whole-exome sequencing: a case report

por Iskandar, Kristy, Herini, Elisabeth S., Triono, Agung, Hadiyanto, Marissa L., Nugrahanto, Andika P., Gunadi
Publicado 2023

The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report

por Triono, Agung, Iskandar, Kristy, Nugrahanto, Andika Priamas, Hadiyanto, Marissa Leviani, Gunadi, Herini, Elisabeth Siti
Publicado 2021

De novo mutation of the TSC2 gene in patient with Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) Phenotype: a case report

por Triono, Agung, Herini, Elisabeth S., Iskandar, Kristy, Hadiyanto, Marissa L., Diantika, Kania, Wijayanti, Veronica W., Gunadi
Publicado 2023

Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing

por Triono, Agung, Iskandar, Kristy, Hadiyanto, Marissa Leviani, Nugrahanto, Andika Priamas, Diantika, Kania, Wijayanti, Veronica Wulan, Herini, Elisabeth Siti
Publicado 2023

Phylogenetic analysis of congenital rubella virus from Indonesia: a case report

por Herini, Elisabeth Siti, Triono, Agung, Iskandar, Kristy, Nuady, Albaaza, Pujiastuti, Lucia Hetty, Marcellus, Nugrahanto, Andika Priamas, Kamal, Musthofa, Gunadi
Publicado 2022

Neurological Manifestations of COVID-19 Associated Multisystem Inflammatory Syndrome in Children (MIS-C) in Yogyakarta, Indonesia

por Herini, Elisabeth Siti, Iskandar, Kristy, Triono, Agung, Swipratami, Alexandra Widita, Dewi, Yunika Puspa, Hadiyanto, Marissa Leviani, Rosalia, Ignatia, Rizki, Salsabilla Hasna Mutiara
Publicado 2023

Dp71 and intellectual disability in Indonesian patients with Duchenne muscular dystrophy

por Iskandar, Kristy, Triono, Agung, Sunartini, Dwianingsih, Ery Kus, Indraswari, Braghmandita Widya, Kirana, Ignatia Rosalia, Ivana, Gabriele, Sutomo, Retno, Patria, Suryono Yudha, Herini, Elisabeth Siti, Gunadi
Publicado 2022

The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine

por Iskandar, Kristy, Dwianingsih, Ery Kus, Pratiwi, Linda, Kalim, Alvin Santoso, Mardhiah, Hasna, Putranti, Alifiani H., Nurputra, Dian K., Triono, Agung, Herini, Elisabeth S., Malueka, Rusdy G., Gunadi, Lai, Poh San, Sunartini
Publicado 2019