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

por Tan, Vivienne J., Lian, Mulias, Faradz, Sultana M.H., Winarni, Tri I., Chong, Samuel S.
Publicado 2018

Clinical lesson learned from genetic analysis in patients prior to surgical repair of hypospadias

por Listyasari, Nurin A., Robevska, Gorjana, Ayers, Katie L., Tan, Tiong Yang, Sinclair, Andrew H., Faradz, Sultana M.H.
Publicado 2022

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

por Zada, Almira, Mundhofir, Farmaditya E. P., Pfundt, Rolph, Leijsten, Nico, Nillesen, Willy, Faradz, Sultana M. H., de Leeuw, Nicole
Publicado 2014

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

por Ediati, Annastasia, Juniarto, A Zulfa, Birnie, Erwin, Okkerse, Jolanda, Wisniewski, Amy, Drop, Stenvert, Faradz, Sultana M H, Dessens, Arianne
Publicado 2017

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

por Ediati, Annastasia, Verrips, Gijsbert H. W., Juniarto, Achmad Zulfa, Faradz, Sultana M. H., Drop, Stenvert L. S., Dessens, Arianne B.
Publicado 2019

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

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

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

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

The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1

por Cayami, Ferdy K., Maugeri, Alessandra, Treurniet, Sanne, Setijowati, Eva D., Teunissen, Bernd P., Eekhoff, Elisabeth M.W., Pals, Gerard, Faradz, Sultana M., Micha, Dimitra
Publicado 2019

Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family

por Siemiatkowska, Anna M., Astuti, Galuh D.N., Arimadyo, Kentar, den Hollander, Anneke I., Faradz, Sultana M.H., Cremers, Frans P.M., Collin, Rob W.J.
Publicado 2012

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

por Ayers, Katie L., Bouty, Aurore, Robevska, Gorjana, van den Bergen, Jocelyn A., Juniarto, Achmad Zulfa, Listyasari, Nurin Aisyiyah, Sinclair, Andrew H., Faradz, Sultana M. H.
Publicado 2017

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 diff...

por Ayers, Katie, van den Bergen, Jocelyn, Robevska, Gorjana, Listyasari, Nurin, Raza, Jamal, Atta, Irum, Riedl, Stefan, Rothacker, Karen, Choong, Catherine, Faradz, Sultana M H, Sinclair, Andrew
Publicado 2019

Functional Characterization of Two New Variants in the Bone Morphogenetic Protein 7 Prodomain in Two Pairs of Monozygotic Twins With Hypospadias

por Bouty, Aurore, Walton, Kelly, Listyasari, Nurin Aisyiyah, Robevska, Gorjana, Van den Bergen, Jocelyn, Santosa, Ardy, Faradz, Sultana M H, Harrison, Craig, Ayers, Katie L, Sinclair, Andrew H
Publicado 2019

Corrigendum: Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country

por Utari, Agustini, Faradz, Sultana M. H., Ediati, Annastasia, Rinne, Tuula, Ariani, Mahayu Dewi, Juniarto, Achmad Zulfa, Drop, Stenvert L. S., van Herwaarden, Antonius E., Claahsen-van der Grinten, Hedi L.
Publicado 2023

Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa

por Khan, Muhammad Imran, Collin, Rob W.J., Arimadyo, Kentar, Micheal, Shazia, Azam, Maleeha, Qureshi, Nadeem, Faradz, Sultana M.H., den Hollander, Anneke I., Qamar, Raheel, Cremers, Frans P.M.
Publicado 2010

Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country

por Utari, Agustini, Faradz, Sultana M. H., Ediati, Annastasia, Rinne, Tuula, Ariani, Mahayu Dewi, Juniarto, Achmad Zulfa, Drop, Stenvert L. S., van Herwaarden, Antonius E., Claahsen-van der Grinten, Hedi L.
Publicado 2022

Severe Dengue Is Associated with Consumption of von Willebrand Factor and Its Cleaving Enzyme ADAMTS-13

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

Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries

por Waaijers, Selma, Utari, Agustini, van der Doelen, Rick H. A., Faradz, Sultana M. H., Hensen‐Lodewijk, Renate, Olthaar, Andre J., Geutjes, Paul J., Sweep, Fred C., Claahsen‐van der Grinten, Hedi L., van Herwaarden, Antonius E.
Publicado 2022

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

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

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study

por Mundhofir, Farmaditya E. P., Nillesen, Willy M., Van Bon, Bregje W. M., Smeets, Dominique, Pfundt, Rolph, van de Ven-Schobers, Gaby, Ruiterkamp-Versteeg, Martina, Winarni, Tri I., Hamel, Ben C. J., Yntema, Helger G., Faradz, Sultana M. H.
Publicado 2013

Osteogenic transdifferentiation of primary human fibroblasts to osteoblast-like cells with human platelet lysate

por Cayami, Ferdy K., Claeys, Lauria, de Ruiter, Ruben, Smilde, Bernard J., Wisse, Lisanne, Bogunovic, Natalija, Riesebos, Elise, Eken, Lyra, Kooi, Irsan, Sistermans, Erik A., Bravenboer, Nathalie, Pals, Gerard, Faradz, Sultana M. H., Sie, Daoud, Eekhoff, E. Marelise W., Micha, Dimitra
Publicado 2022