Dr. dr. Yulia Ariani Aswin, Sp.A (K) Konsultan Nutrisi dan Metabolik Anak
Profil Dokter
Nama Dokter
Dr. dr. Yulia Ariani Aswin, Sp.A (K) Konsultan Nutrisi dan Metabolik Anak
Deskripsi
Profile:
Spesialis Anak
Educational Background:
1996: Medical doctor, Faculty of medicine, Universitas Indonesia
2008: Pediatrician, Department of Child Health, Cipto Mangunkusumo Hospital Jakarta
2019: Doctoral program of Biomedical science FMUI, Faculty of medicine, Universitas Indonesia, Jakarta, Indonesia
Researches
Principal Investigator (PI), Profile of tetanus patients in pediatric ward Cipto Mangunkusumo Hospital
Principal Investigator (PI), Nutritional status of cerebral palsy patients in “Poliklinik Tumbuh Kembang”, Department of Child health Cipto Mangunkusumo Hospital
Principal Investigator (PI), The role of genetic and environment of body mass variability in children
Principal Investigator (PI), Evaluation on level of knowledge and skills of third year medical students to do prenatal counseling
Principal Investigator (PI), Mutation of NPHS1 gene in a family with a history of two congenital nephrotic syndrome children
Principal Investigator (PI), Characteristics of patients sent to Cytogenetics laboratorium of medical Biology department, Faculty of medicine Universitas Indonesia
Principal Investigator (PI), Phenotyping and karyotipyng of multiple congenital abnormality children in Cipto Mangunkusumo Hospital
Principal Investigator (PI), Identification of Copy Number Variations of children with congenital malformation using single nucleotide polymorphism array.
Principal Investigator (PI), Profile of Iduronate 2-Sulphatase (IDS) gene variants from Indonesian Mucopolysaccharidosis type II Patients: A Preliminary Study
Co-investigator, Urine glycosaminoglicans screening for mucopolysaccharidosis type II patients
Co-investigator, Detection of iduronate 2-sulphatase enzyme activity as a confirmatory test for mucopolysaccharidosis type II patients
Co-investigator, Developing genetic diagnostic of embryo using a-CGH
Organization
IDAI Jakarta, UK Nutrisi dan Penyakit Metabolik
Asia Pacific Society of Human Genetics
American Society of Human genetics
Human Variome Project, UNESCO
Publication
Identification of a Novel Variant in Exon 5 of Galactosamine (N-Acetyl)-6-Sulfatase (GALNS) Gene in Mucopolysaccharidosis IVA Patients in Indonesia. Ariani Y, Priambodo R, Sjarif DR. J Natural Sc Biol Med. 2019.
Mutation Analysis of Exon 8 of the Iduronate-2-Sulfatase Gene in Mucopolysaccharidosis Type II Patients in Indonesia. Ariani Y, Priambodo R, Sjarif DR.J Natural Sc Biol Med. 2019.
Identification of A Deletion Variant in Exon 9 of Iduronate 2-Sulfatase Gene in Patients with Type II. Ariani Y, Priambodo R, Hafifah CN, Sjarif. J Natural Sc Biol Med. 2019.
Profile of Iduronate 2-Sulphatase (IDS) gene variants from Indonesian Mucopolysaccharidosis type II Patients: A Preliminary Study. Ariani Y, Priambodo R, Hafifah CN, Sjarif DR. 13th Asia Pacific Conference on Human Genetics, Manila, Philippine. 2019.
Bilateral cleft lip and palate in ring chromosome 7 syndrome : a case report and review of clinical characteristics. Kristaninta Bangun, Prasetyanugraheni Kreshanti, Vika Tania, Yulia Ariani, Clara Menna, leorca Aurino.American Cleft palate Craniofacial Association. 2023.
DNA quality from buccal swabs in neonates: comparison of different storage time. Klara Yuliarti, Muchtaruddin Mansyur, Ina Susianti Timan, Yulia Ariani , Ernawati, I Gusti Lanang Sidhiarta, Nadhifa Tazkia Ramadhani, Nurul Muhammad Prakoso, Damayanti Rusli Sjarif. Medical Journal of Indonesia. 2023.
Tinjaunan Genomik dan Epigenomic Proses Penuaan pada Manusia, dalam: Penuaan dan Intervensi Penuaan. Yulia Ariani, Dwi Ari Pujianto, Asmarinah. UI Publishing. 2023.