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6506242684 |
Damayanti Rusli Sjarif |
Prof. Dr. dr. Damayanti Rusli Sjarif, SpA(K) |
Departemen Ilmu Kesehatan Anak |
Ilmu Kesehatan Anak (Sp-2) |
Novel base alterations at intron 3 of 6-pyruvoyl-tetrahydropterin synthase gene in Indonesian population |
Pustimbara A., Putri D.C., Prakoso N.M., Priambodo R., Ariani Y., Yuliarti K., Bowolaksono A., Sjarif D.R. |
AIP Conference Proceedings |
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6506242684 |
Damayanti Rusli Sjarif |
Prof. Dr. dr. Damayanti Rusli Sjarif, SpA(K) |
Departemen Ilmu Kesehatan Anak |
Ilmu Kesehatan Anak (Sp-2) |
Identification of novel mutations in exon 1 of iduronate-2-sulfatase gene from mucopolysaccharidosis type II patient in Indonesia |
Widyaningrum A.R., Prakoso N.M., Priambodo R., Aswin Y.A., Hafifah C.N., Sjarif D.R. |
AIP Conference Proceedings |
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6506242684 |
Damayanti Rusli Sjarif |
Prof. Dr. dr. Damayanti Rusli Sjarif, SpA(K) |
Departemen Ilmu Kesehatan Anak |
Ilmu Kesehatan Anak (Sp-2) |
Variant analysis for exon 2 and 5 of iduronate 2-sulfatase gene on mucopolysaccharidosis type II patients in Indonesia |
Pustimbara A., Prakoso N.M., Priambodo R., Ariani Y., Arianto S., Pangestika Y., Bowolaksono A., Sjarif D.R. |
AIP Conference Proceedings |
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6506242684 |
Damayanti Rusli Sjarif |
Prof. Dr. dr. Damayanti Rusli Sjarif, SpA(K) |
Departemen Ilmu Kesehatan Anak |
Ilmu Kesehatan Anak (Sp-2) |
Variant identification of exon 11 of galactosamine (N-acetyl)-6-sulfatase (GALNS) gene in mucopolysaccharidosis type IVA patients in Indonesia |
Sulaiman R.A.R., Aji R.P., Prakoso N.M., Priambodo R., Aswin Y.A., Hafifah C.N., Sjarif D.R. |
AIP Conference Proceedings |
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6506242684 |
Damayanti Rusli Sjarif |
Prof. Dr. dr. Damayanti Rusli Sjarif, SpA(K) |
Departemen Ilmu Kesehatan Anak |
Ilmu Kesehatan Anak (Sp-2) |
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency |
Coughlin C.R., II, Tseng L.A., Abdenur J.E., Ashmore C., Boemer F., Bok L.A., Boyer M., Buhas D., Clayton P.T., Das A., Dekker H., Evangeliou A., Feillet F., Footitt E.J., Gospe S.M., Jr., Hartmann H., Kara M., Kristensen E., Lee J., Lilje R., Longo N., Lunsing R.J., Mills P., Papadopoulou M.T., Pearl P.L., Piazzon F., Plecko B., Saini A.G., Santra S., Sjarif D.R., Stockler-Ipsiroglu S., Striano P., Van Hove J.L.K., Verhoeven-Duif N.M., Wijburg F.A., Zuberi S.M., van Karnebeek C.D.M. |
Journal of Inherited Metabolic Disease |
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Q2 |
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No records
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6506558321 |
Chaidir Arif Mochtar |
Prof. Dr. dr. Chaidir Arif Mochtar, SpU |
Departemen Urologi |
Urologi (Sp-1) |
Silent Hypertensive Crisis in an Adolescent: First Case Report of Pediatric Pheochromocytoma from Indonesia |
Ambarsari C.G., Hidayati E.L., Tridjaja B., Mochtar C.A., Wulandari H.F., Harahap A.S., Grace A. |
Global Pediatric Health |
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Q1 |
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6506558321 |
Chaidir Arif Mochtar |
Prof. Dr. dr. Chaidir Arif Mochtar, SpU |
Departemen Urologi |
Urologi (Sp-1) |
The Role of 3D-Printed Phantoms and Devices for Organ-specified Appliances in Urology |
Agung N.P., Nadhif M.H., Irdam G.A., Mochtar C.A. |
International Journal of Bioprinting |
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Q1 |
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6506558321 |
Chaidir Arif Mochtar |
Prof. Dr. dr. Chaidir Arif Mochtar, SpU |
Departemen Urologi |
Urologi (Sp-1) |
Assessing the online objective structured clinical examinations in urology qualifying exam for urology residents in Indonesia during COVID-19 time |
Sihombing A.T., Taher A., Rodjani A., Mochtar C.A., Hakim L., Daryanto B., Danarto H.R., Umbas R. |
MethodsX |
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Q2 |
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