AB013. Distribution of azoospermia factor microdeletions in Indonesian infertile males

av Juniarto, Achmad Zulfa, Listyasari, Nurin Aisyiyah, Faradz, Sultana MH
I publikationen Ann Transl Med (2017)

AB004. Genetic diagnosis and experiences in management of disorders of sex development in Indonesia

av Faradz, Sultana MH, Listyasari, Nurin Aisyiyah, Juniarto, Achmad Zulfa
I publikationen Ann Transl Med (2017)

AB060. A family with three children of rare intellectual disability syndrome

av Pratamawati, Tiar, Sihombing, Nydia, Nauphar, Donny, Faradz, Sultana MH
I publikationen Ann Transl Med (2017)

Association between methylenetetrahydrofolate reductase (MTHFR) polymorphism and carotid intima medial thickness progression in post ischaemic stroke patient

av Pramukarso, Dodik T., Faradz, Sultana M.H., Sari, Stefani, Hadisaputro, Soeharyo
I publikationen Ann Transl Med (2015)

AB068. Association between MTHFR C677T and carotid intima medial thickness progression in post-ischemic stroke patient

av Pramukarso, Dodik Tugasworo, Faradz, Sultana MH, Sari, Stefani Harum, Hadisaputro, Suharyo
I publikationen Ann Transl Med (2015)

AB010. Aberrant behavior profile of fragile X syndrome in medically underserved population

av Winarni, Tri, Sumekar, Tanjung, Sardjana, Widodo, Hardian, Hardian, Faradz, Sultana MH
I publikationen Ann Transl Med (2017)

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

av Ariani, Mahayu Dewi, Maharani, Nani, Bahrudin, Udin, Utari, Agustini, Faradz, Sultana MH
Publicerad 2013

AB079. Phenotype variation in untreated 46,XX congenital adrenal hyperplasia

av Faradz, Sultana MH, Utari, Agustini, Ediati, Annastasia, Ariani, Mahayu Dewi, Juniarto, Achmad Zulfa
I publikationen Ann Transl Med (2015)

Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation

av Sihombing, Nydia Rena Benita, de Leeuw, Nicole, van Bokhoven, Hans, Faradz, Sultana MH
I publikationen BMJ Case Rep (2019)

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

av Juniarto, Achmad Zulfa, Ulfah, Maria, Ariani, Mahayu Dewi, Utari, Agustini, Faradz, Sultana MH
I publikationen J ASEAN Fed Endocr Soc (2018)

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

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

AB174. Genetic counseling in the couple with compound heterozygous carrier based on the result of mutation effect analysis on cystic fibrosis transmembrane conductance regulator (C...

av Permata Sari, Ariestya Indah, Farhat, Raed, Ladeveze, Véronique, Faradz, Sultana M. H., Kitzis, Alain
I publikationen Ann Transl Med (2015)

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

av Tan, Vivienne J., Lian, Mulias, Faradz, Sultana M.H., Winarni, Tri I., Chong, Samuel S.
I publikationen Front Genet (2018)

AB065. Genetic testing and counseling in family with late onset autosomal dominant spinocerebellar ataxia

av Listyasari, Nurin Aisyiyah, Sihombing, Nydia Rena Benita, Winarni, Tri Indah, Belladona, Maria, Faradz, Sultana MH
I publikationen Ann Transl Med (2017)

AB081. Variable major phenotypes in familial Marfan syndrome in Indonesia: a case report

av Maharani, Nani, Setyawati, Amallia N., Rifqi, Sodiqur, Sungkar, Muhammad A., Pals, Gerard, Faradz, Sultana MH
I publikationen Ann Transl Med (2017)

Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia

av Brajadenta, Gara Samara, Utari, Agustini, Patri, Sylvie, Bilan, Frédéric, Faradz, Sultana Muhammad Hussein, Kitzis, Alain, Thoreau, Vincent
I publikationen Ann Lab Med (2019)

Methadone Use in a Male With the FMR1 Premutation and FXTAS

av Muzar, Zukhrofi, Lozano, Reymundo, Schneider, Andrea, Adams, Patrick E., Faradz, Sultana M.H., Tassone, Flora, Hagerman, Randi J.
I publikationen Am J Med Genet A (2015)

Optimization of PCR Condition: The First Study of High Resolution Melting Technique for Screening of APOA1 Variance

av Wahyuningsih, Hesty, K Cayami, Ferdy, Bahrudin, Udin, A Sobirin, Mochamad, EP Mundhofir, Farmaditya, MH Faradz, Sultana, Hisatome, Ichiro
I publikationen Yonago Acta Med (2017)

Surveillance and prevalence of fragile X syndrome in Indonesia

av Sihombing, Nydia Rena Benita, Winarni, Tri Indah, Utari, Agustini, van Bokhoven, Hans, Hagerman, Randi J, Faradz, Sultana MH
I publikationen Intractable Rare Dis Res (2021)

Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum

av Yuniati, Renni, Sihombing, Nydia Rena Benita, Nauphar, Donny, Tiawarman, Budi, Kartikasari, Diah Shinta, Dewi, Meira, Faradz, Sultana MH
I publikationen Intractable Rare Dis Res (2021)