Found: 26
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Functional Characterization of Two New Variants in the Bone Morphogenetic Protein 7 Prodomain in Two Pairs of Monozygotic Twins With Hypospadias.
- Published in:
- Journal of the Endocrine Society, 2019, v. 3, n. 4, p. 814, doi. 10.1210/js.2018-00333
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- Publication type:
- Article
Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene.
- Published in:
- PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0173279
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- Publication type:
- Article
Gonadoblastoma Arising in Undifferentiated Gonadal Tissue within Dysgenetic Gonads.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 6, p. 2404, doi. 10.1210/jc.2005-2554
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- Publication type:
- Article
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1095
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- Publication type:
- Article
Analysis of the androgen receptor (AR) gene in a cohort of Indonesian undermasculinized 46, XY DSD patients.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00134-3
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- Publication type:
- Article
Osteogenic transdifferentiation of primary human fibroblasts to osteoblast-like cells with human platelet lysate.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-18512-1
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- Publication type:
- Article
Lack of correlation between phenotype and genotype in untreated 21-hydroxylase-deficient Indonesian patients.
- Published in:
- Clinical Endocrinology, 2009, v. 71, n. 5, p. 628, doi. 10.1111/j.1365-2265.2009.03550.x
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- Publication type:
- Article
p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.
- Published in:
- 2013
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- Publication type:
- journal article
A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-üld Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability.
- Published in:
- 2014
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- Publication type:
- Case Study
Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient.
- Published in:
- Case Reports in Genetics, 2012, p. 1, doi. 10.1155/2012/949507
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- Publication type:
- Article
Severe Dengue Is Associated with Consumption of von Willebrand Factor and Its Cleaving Enzyme ADAMTS-13.
- Published in:
- PLoS Neglected Tropical Diseases, 2012, v. 6, n. 5, p. 1, doi. 10.1371/journal.pntd.0001628
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- Publication type:
- Article
Application of the New Classification on Patients with a Disorder of Sex Development in Indonesia.
- Published in:
- International Journal of Endocrinology, 2012, p. 1, doi. 10.1155/2012/237084
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- Publication type:
- Article
Glucocorticoid Activity of Adrenal Steroid Precursors in Untreated Patients With Congenital Adrenal Hyperplasia.
- Published in:
- 2019
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- Publication type:
- journal article
Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys.
- Published in:
- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0098-2
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- Publication type:
- Article
Increase of Plasminogen Activator Inhibitor-1 and Decrease of Transforming Growth Factor-Β1 in Children with Dengue Haemorrhagic Fever in Indonesia.
- Published in:
- Journal of Tropical Pediatrics, 2011, v. 57, n. 6, p. 424, doi. 10.1093/tropej/fmq122
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- Publication type:
- Article
Training in clinical genetics and genetic counseling in Asia.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 177, doi. 10.1002/ajmg.c.31703
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- Publication type:
- Article
Pituitary Macroadenoma in a Girl with Male Karyotype: A Rare Case Study.
- Published in:
- Acta Medica Indonesiana, 2023, v. 55, n. 1, p. 87
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- Publication type:
- Article
Virilization Due to Androgen Hypersecretion in a Patient with Ovarian Leydig Cell Tumor: Diagnostic and Psychosocial Implications.
- Published in:
- Acta Medica Indonesiana, 2013, v. 45, n. 2, p. 130
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- Publication type:
- Article
46,XX males with congenital adrenal hyperplasia: a clinical and biochemical description.
- Published in:
- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1410122
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- Publication type:
- Article
Blood spots screening for identification of Fragile X Syndrome among intellectual disability students in Flores Island, INDONESIA.
- Published in:
- 2013
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- Publication type:
- Abstract
Genetic Counseling/Consultation in South-East Asia: A Report from the Workshop at the 10th Asia Pacific Conference on Human Genetics.
- Published in:
- Journal of Genetic Counseling, 2013, v. 22, n. 6, p. 917, doi. 10.1007/s10897-013-9646-7
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- Publication type:
- Article
Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2731, doi. 10.1002/ajmg.a.61835
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- Publication type:
- Article
Imbalance of Angiopoietin-1 and Angiopoetin-2 in Severe Dengue and Relationship with Thrombocytopenia, Endothelial Activation, and Vascular Stability.
- Published in:
- American Journal of Tropical Medicine & Hygiene, 2012, v. 87, n. 5, p. 943, doi. 10.4269/ajtmh.2012.12-0020
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- Publication type:
- Article
Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries.
- Published in:
- Clinical Endocrinology, 2023, v. 98, n. 1, p. 41, doi. 10.1111/cen.14754
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- Publication type:
- Article
Maternal Polymorphism MTHFR A1298C not C677T and MSX1 as the Risk Factors of Non-syndrome Cleft Lips/Palate in Sasak Tribe Indonesia.
- Published in:
- Journal of International Dental & Medical Research, 2018, v. 11, n. 1, p. 120
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- Publication type:
- Article
Should we identify HLA-B*15:02 polymorphism before prescribing carbamazepine to Indonesian patients? A study among febrile seizure patients with a high risk of epilepsy.
- Published in:
- Drug Invention Today, 2019, v. 11, n. 3, p. 531
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- Publication type:
- Article