Search details
1.
Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries.
Clin Endocrinol (Oxf)
; 98(1): 41-48, 2023 01.
Article
in English
| MEDLINE | ID: mdl-35514026
2.
Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism.
Am J Med Genet A
; 182(11): 2731-2736, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32945093
3.
Turner syndrome in diverse populations.
Am J Med Genet A
; 182(2): 303-313, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31854143
4.
Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development.
J Med Genet
; 56(7): 434-443, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31018998
5.
Training in clinical genetics and genetic counseling in Asia.
Am J Med Genet C Semin Med Genet
; 181(2): 177-186, 2019 06.
Article
in English
| MEDLINE | ID: mdl-31037827
6.
Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys.
Hum Genomics
; 11(1): 1, 2017 02 16.
Article
in English
| MEDLINE | ID: mdl-28209183
7.
Current practice for genetic counselling by nurses: An integrative review.
Int J Nurs Pract
; 24(2): e12629, 2018 Apr.
Article
in English
| MEDLINE | ID: mdl-29462836
8.
Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia.
Clin Endocrinol (Oxf)
; 85(2): 247-57, 2016 08.
Article
in English
| MEDLINE | ID: mdl-26935236
9.
SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.
Hum Mutat
; 36(12): 1145-9, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26247899
10.
Methadone use in a male with the FMRI premutation and FXTAS.
Am J Med Genet A
; 167(6): 1354-9, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25900641
11.
Gender Development in Indonesian Children, Adolescents, and Adults with Disorders of Sex Development.
Arch Sex Behav
; 44(5): 1339-61, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25813609
12.
Combination of Aspartate Aminotranferase and Tumor Necrosis Factor-α as Non Invasive Diagnostic Tools for Non Alcoholic Steatohepatitis (NASH).
Acta Med Indones
; 47(1): 16-23, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25948763
13.
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.
Mol Vis
; 20: 753-9, 2014.
Article
in English
| MEDLINE | ID: mdl-24940029
14.
Genetic counseling/consultation in South-East Asia: a report from the workshop at the 10th Asia pacific conference on human genetics.
J Genet Couns
; 22(6): 917-24, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-24048708
15.
Virilization due to androgen hypersecretion in a patient with ovarian leydig cell tumor: diagnostic and psychosocial implications.
Acta Med Indones
; 45(2): 130-5, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23770793
16.
Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study.
Indian J Hum Genet
; 19(2): 171-8, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-24019618
17.
Analysis of Consanguinity as Risk Factor of Nonsyndromic Cleft Lips with or without Palate.
Eur J Dent
; 2023 Nov 23.
Article
in English
| MEDLINE | ID: mdl-37995730
18.
Corrigendum: Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country.
Front Endocrinol (Lausanne)
; 14: 1210892, 2023.
Article
in English
| MEDLINE | ID: mdl-37214254
19.
Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family.
Mol Vis
; 18: 2411-9, 2012.
Article
in English
| MEDLINE | ID: mdl-23077400
20.
Immune-mediated disorders among women carriers of fragile X premutation alleles.
Am J Med Genet A
; 158A(10): 2473-81, 2012 Oct.
Article
in English
| MEDLINE | ID: mdl-22903889