Detalhe da pesquisa
1.
Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations.
Neurol Sci
; 2024 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38806879
2.
Phylogenetic analysis of congenital rubella virus from Indonesia: a case report.
BMC Pediatr
; 22(1): 713, 2022 12 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36513987
3.
Clinical profile of congenital rubella syndrome in Yogyakarta, Indonesia.
Pediatr Int
; 60(2): 168-172, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29068106
4.
Hospital-based surveillance of congenital rubella syndrome in Indonesia.
Eur J Pediatr
; 176(3): 387-393, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28091778
5.
Genetic exploration of Dravet syndrome: two case report.
J Med Case Rep
; 18(1): 215, 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38649973
6.
Phenotypes of a female patient with novel de novo frameshift ARX variant identified by whole-exome sequencing: a case report.
Ann Med Surg (Lond)
; 85(2): 236-241, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36845779
7.
De novo mutation of the TSC2 gene in patient with Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) Phenotype: a case report.
Ann Med Surg (Lond)
; 85(5): 2102-2107, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37228977
8.
Neurological Manifestations of COVID-19 Associated Multisystem Inflammatory Syndrome in Children (MIS-C) in Yogyakarta, Indonesia.
Indian Pediatr
; 60(5): 373-376, 2023 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36756999
9.
Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing.
PLoS One
; 18(10): e0293113, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37878632
10.
Predictor of Liver Biochemistry Improvement in Patients with Cytomegalovirus Cholestasis after Ganciclovir Treatment.
Pediatr Gastroenterol Hepatol Nutr
; 25(1): 70-78, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35087735
11.
The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report.
Ann Med Surg (Lond)
; 73: 103170, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34976390
12.
Dp71 and intellectual disability in Indonesian patients with Duchenne muscular dystrophy.
PLoS One
; 17(10): e0276640, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36315559
13.
Congenital Rubella Syndrome Surveillance After Measles Rubella Vaccination Introduction in Yogyakarta, Indonesia.
Pediatr Infect Dis J
; 40(12): 1144-1150, 2021 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34609101
14.
The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine.
BMC Res Notes
; 12(1): 704, 2019 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31661024