Search Results - "Ilma, Nissya"

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  1. 1
    Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report

    Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report by Iskandar, Kristy, Astari, Farida Niken, Gumilang, Rizki Amalia, Ilma, Nissya, Shartyanie, Ni Putu, Adistyawan, Guritno, Tan, Grace, Lai, Poh San

    Published in BMC pediatrics (17-10-2022)
    “…Background Emery-Dreifuss Muscular Dystrophy (EDMD) is an uncommon genetic disease among the group of muscular dystrophies. EDMD is clinically heterogeneous…”
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  2. 2
    Use of air stacking to improve pulmonary function in Indonesian Duchenne muscular dystrophy patients: bridging the standard of care gap in low middle income country setting

    Use of air stacking to improve pulmonary function in Indonesian Duchenne muscular dystrophy patients: bridging the standard of care gap in low middle income country setting by Iskandar, Kristy, Sunartini, Nugrahanto, Andika Priamas, Ilma, Nissya, Kalim, Alvin Santoso, Adistyawan, Guritno, Siswanto, Naning, Roni

    Published in BMC proceedings (16-12-2019)
    “…Duchenne Muscular Dystrophy (DMD) is a fatal X-linked recessive neuromuscular disease, characterized by progressive loss of muscle strength. Respiratory…”
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