Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys

Q2

HUMAN GENOMICS , vol. 11 , pp. 1

Social stigmatisation in late identified patients with disorders of sex development in Indonesia

NQ

BMJ PAEDIATRICS OPEN , vol. 1

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

Q1

EUROPEAN JOURNAL OF HUMAN GENETICS (ISSN: 10184813) , vol. 24 , pp. 1071-1079

Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia

Q1

CLINICAL ENDOCRINOLOGY (ISSN: 03000664) , vol. 85 , pp. 247-257

Mutations in AGBL5, encoding a-tubulin deglutamylase, are associated with autosomal recessive retinitis pigmentosa

Q1

INVESTIGATIVE OPHTHALMOLOGY AND VISUAL SCIENCE (ISSN: 01460404) , vol. 57 , pp. 6180-6187

Disorders of sex development: Insights from targeted gene sequencing of a large international patient cohort

Q1

GENOME BIOLOGY (ISSN: 14747596) , vol. 17

Body image and sexuality in indonesian adults with a disorder of sex development (DSD)

Q1

JOURNAL OF SEX RESEARCH (ISSN: 00224499) , vol. 52 , pp. 15-29

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1

Q1

EUROPEAN JOURNAL OF HUMAN GENETICS (ISSN: 10184813) , vol. 23 , pp. 486-493

Validation of a commercially available screening tool for the rapid identification of CGG trinucleotide repeat expansions in FMR1

Q1

JOURNAL OF MOLECULAR DIAGNOSTICS (ISSN: 15251578) , vol. 17 , pp. 302-314

Methadone use in a male with the FMRI premutation and FXTAS

Q2

AMERICAN JOURNAL OF MEDICAL GENETICS, PART A (ISSN: 15524825) , vol. 167 , pp. 1354-1359