Plasma renin activity profile of patients with congenital adrenal hyperplasia in Semarang, Indonesia: a preliminary study

por Ariani, Mahayu Dewi, Maharani, Nani, Bahrudin, Udin, Utari, Agustini, Faradz, Sultana MH
Publicado 2013

Phenotypic Variation of 46,XX Late Identified Congenital Adrenal Hyperplasia among Indonesians

por Juniarto, Achmad Zulfa, Ulfah, Maria, Ariani, Mahayu Dewi, Utari, Agustini, Faradz, Sultana MH
Publicado 2018

Blood spots screening for identification of Fragile X Syndrome among intellectual disability students in Flores Island, INDONESIA

por Utari, Agustini, Lo, Joyce, Tong, Tzuhan, Winarni, Tri Indah, Faradz, Sultana MH, Tassone, Flora
Publicado 2013

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

Epidermolysis Bullosa and Rickets in a 21-Year-Old Female: A Case Report

por Yuniati, Renni, Hellmi, Rakhma Yanti, Dwijayanti, Gema Citra, Astuti, Meira Dewi Kusuma, Pals, Gerard, Micha, Dimitra, Faradz, Sultana MH
Publicado 2022

Gender change and stigmatization in late-treated Indonesian children, adolescent, and adult patients with DSD

por Ediati, Annastasia, Juniarto, Achmad Zulfa, Birnie, Erwin, Okkerse, Jolanda, de la Croix, Anne, Wisniewski, Amy, Drop, Stenvert, Faradz, Sultana MH, Dessens, Arianne
Publicado 2015

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

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

por Eggers, Stefanie, Smith, Katherine R, Bahlo, Melanie, Looijenga, Leendert HJ, Drop, Stenvert LS, Juniarto, Zulfa A, Harley, Vincent R, Koopman, Peter, Faradz, Sultana MH, Sinclair, Andrew H
Publicado 2015

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

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping

por Siemiatkowska, Anna M., Arimadyo, Kentar, Moruz, Luminita M., Astuti, Galuh D.N., de Castro-Miro, Marta, Zonneveld, Marijke N., Strom, Tim M., de Wijs, Ilse J., Hoefsloot, Lies H., Faradz, Sultana M.H., Cremers, Frans P.M., den Hollander, Anneke I., Collin, Rob W.J.
Publicado 2011

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

por Siemiatkowska, Anna M., van den Born, L. Ingeborgh, van Genderen, Maria M., Bertelsen, Mette, Zobor, Ditta, Rohrschneider, Klaus, van Huet, Ramon A.C., Nurohmah, Siska, Klevering, B. Jeroen, Kohl, Susanne, Faradz, Sultana M.H., Rosenberg, Thomas, den Hollander, Anneke I., Collin, Rob W.J., Cremers, Frans P.M.
Publicado 2014