Micronucleus Frequencies and DNA Repair Gene XRCC3 Polymorphism in Radiation Workers of Center for Multipurpose Reactor

by D. Ramadhani, Y. Lusiyanti, M. Syaifudin, S.M.H. Faradz
Published 2018-04-01

Quality of Life in Late-Treated Patients With Disorders of Sex Development: Insights for Patient-Centered Care

by Annastasia Ediati, Annastasia Ediati, Gijsbert H. W. Verrips, Achmad Zulfa Juniarto, Achmad Zulfa Juniarto, Sultana M. H. Faradz, Sultana M. H. Faradz, Stenvert L. S. Drop, Arianne B. Dessens
Published 2019-01-01

Analysis of the androgen receptor (AR) gene in a cohort of Indonesian undermasculinized 46, XY DSD patients

by Nurin Aisyiyah Listyasari, Achmad Zulfa Juniarto, Gorjana Robevska, Katie L. Ayers, Andrew H. Sinclair, Sultana M. H. Faradz
Published 2021-02-01

A Single Common Assay for Robust and Rapid Fragile X Mental Retardation Syndrome Screening From Dried Blood Spots

by Vivienne J. Tan, Mulias Lian, Sultana M.H. Faradz, Tri I. Winarni, Samuel S. Chong, Samuel S. Chong, Samuel S. Chong
Published 2018-11-01

A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability

by Almira Zada, Farmaditya E. P. Mundhofir, Rolph Pfundt, Nico Leijsten, Willy Nillesen, Sultana M. H. Faradz, Nicole de Leeuw
Published 2014-01-01

Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient

by Farmaditya E. P. Mundhofir, Helger G. Yntema, Ineke van der Burgt, Ben C. J. Hamel, Sultana M. H. Faradz, Bregje W. M. van Bon
Published 2012-01-01

Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene.

by Grace X Y Lim, Minli Yeo, Yvonne Y Koh, Tri Indah Winarni, Indhu-Shree Rajan-Babu, Samuel S Chong, Sultana M H Faradz, Ming Guan
Published 2017-01-01

Severe dengue is associated with consumption of von Willebrand factor and its cleaving enzyme ADAMTS-13.

by Kis Djamiatun, Andre J A M van der Ven, Philip G de Groot, Sultana M H Faradz, D Hapsari, Wil M V Dolmans, Silvie Sebastian, Rob Fijnheer, Quirijn de Mast
Published 2012-01-01

Application of the New Classification on Patients with a Disorder of Sex Development in Indonesia

by A. Zulfa Juniarto, Yvonne G. van der Zwan, Ardy Santosa, Remko Hersmus, Frank H. de Jong, Renske Olmer, Hennie T. Bruggenwirth, Axel P. N. Themmen, Katja P. Wolffenbuttel, Leendert H. J. Looijenga, Sultana M. H. Faradz, Stenvert L. S. Drop
Published 2012-01-01

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development

by Jocelyn A. van denBergen, Gorjana Robevska, Stefanie Eggers, Stefan Riedl, Sonia R. Grover, Philip B. Bergman, Chris Kimber, Ashish Jiwane, Sophy Khan, Csilla Krausz, Jamal Raza, Irum Atta, Susan R. Davis, Makato Ono, Vincent Harley, Sultana M. H. Faradz, Andrew H. Sinclair, Katie L. Ayers
Published 2020-03-01