Validation of a Commercially Available Screening Tool for the Rapid Identification of CGG Trinucleotide Repeat Expansions in FMR1
Lim, Grace X.Y, Loo, Yu Ling, Mundhofir, Farmaditya E.P, Cayami, Ferdy K, Faradz, Sultana M.H, Rajan-Babu, Indhu-Shree, Chong, Samuel S, Koh, Yvonne Y, Guan, Ming
Published in The Journal of molecular diagnostics : JMD (01.05.2015)
Published in The Journal of molecular diagnostics : JMD (01.05.2015)
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Journal Article
Emotional and behavioral problems in late-identified Indonesian patients with disorders of sex development
Ediati, Annastasia, Faradz, Sultana M.H, Juniarto, Achmad Zulfa, van der Ende, Jan, Drop, Stenvert L.S, Dessens, Arianne B
Published in Journal of psychosomatic research (01.07.2015)
Published in Journal of psychosomatic research (01.07.2015)
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Journal Article
Immune-mediated disorders among women carriers of fragile X premutation alleles
Winarni, Tri Indah, Chonchaiya, Weerasak, Sumekar, Tanjung Ayu, Ashwood, Paul, Morales, Guadalupe Mendoza, Tassone, Flora, Nguyen, Danh V., Faradz, Sultana M.H., Van de Water, Judy, Cook, Kylee, Hamlin, Alyssa, Mu, Yi, Hagerman, Paul J., Hagerman, Randi J.
Published in American journal of medical genetics. Part A (01.10.2012)
Published in American journal of medical genetics. Part A (01.10.2012)
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Journal Article
Severe dengue is associated with consumption of von Willebrand factor and its cleaving enzyme ADAMTS-13
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
Published in PLoS neglected tropical diseases (01.05.2012)
Published in PLoS neglected tropical diseases (01.05.2012)
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Journal Article
Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum
Yuniati, Renni, Sihombing, Nydia Rena Benita, Nauphar, Donny, Tiawarman, Budi, Kartikasari, Diah Shinta, Dewi, Meira, Faradz, Sultana MH
Published in Intractable & Rare Diseases Research (01.05.2021)
Published in Intractable & Rare Diseases Research (01.05.2021)
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Journal Article
Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion
Mundhofir, Farmaditya E.P., Smeets, Dominique, Nillesen, Willy, Winarni, Tri Indah, Yntema, Helger G., de Leeuw, Nicole, Hamel, Ben C.J., Faradz, Sultana M.H., van Bon, Bregje W.M.
Published in Gene (15.12.2012)
Published in Gene (15.12.2012)
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Journal Article
High plasma mid-regional pro-adrenomedullin levels in children with severe dengue virus infections
Michels, Meta, Djamiatun, Kis, Faradz, Sultana M.H, Koenders, Mieke M.J.F, de Mast, Quirijn, van der Ven, André J.A.M
Published in Journal of clinical virology (01.01.2011)
Published in Journal of clinical virology (01.01.2011)
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Journal Article
Optimization of PCR Condition : The First Study of High Resolution Melting Technique for Screening of APOA1 Variance
Wahyuningsih, Hesty, K Cayami, Ferdy, Bahrudin, Udin, A Sobirin, Mochamad, Ep Mundhofir, Farmaditya, Mh Faradz, Sultana, Hisatome, Ichiro
Published in YONAGO ACTA MEDICA (01.03.2017)
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Published in YONAGO ACTA MEDICA (01.03.2017)
Journal Article
Distribution of AGG interruption patterns within nine world populations
Yrigollen, Carolyn M., Sweha, Stefan, Durbin-Johnson, Blythe, Zhou, Lili, Berry-Kravis, Elizabeth, Fernandez-Carvajal, Isabel, Faradz, Sultana MH, Amiri, Khaled, Shaheen, Huda, Polli, Roberta, Murillo-Bonilla, Luis, Gabriel de Jesus Silva Arevalo, Cogram, Patricia, Murgia, Alessandra, Tassone, Flora
Published in Intractable & Rare Diseases Research (01.11.2014)
Published in Intractable & Rare Diseases Research (01.11.2014)
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Journal Article
A cytogenetic study in a large population of intellectually disabled Indonesians
Mundhofir, Farmaditya E P, Winarni, Tri Indah, van Bon, Bregje W, Aminah, Siti, Nillesen, Willy M, Merkx, Gerard, Smeets, Dominique, Hamel, Ben C J, Faradz, Sultana M H, Yntema, Helger G
Published in Genetic testing and molecular biomarkers (01.05.2012)
Published in Genetic testing and molecular biomarkers (01.05.2012)
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Journal Article
Glucocorticoid Activity of Adrenal Steroid Precursors in Untreated Patients With Congenital Adrenal Hyperplasia
Engels, Manon, Pijnenburg-Kleizen, Karijn J, Utari, Agustini, Faradz, Sultana M H, Oude-Alink, Sandra, van Herwaarden, Antonius E, Span, Paul N, Sweep, Fred C, Claahsen-van der Grinten, Hedi L
Published in The journal of clinical endocrinology and metabolism (01.11.2019)
Published in The journal of clinical endocrinology and metabolism (01.11.2019)
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Journal Article
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark
Astuti, Galuh D N, Bertelsen, Mette, Preising, Markus N, Ajmal, Muhammad, Lorenz, Birgit, Faradz, Sultana M H, Qamar, Raheel, Collin, Rob W J, Rosenberg, Thomas, Cremers, Frans P M
Published in European journal of human genetics : EJHG (01.07.2016)
Published in European journal of human genetics : EJHG (01.07.2016)
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Journal Article
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 differences of sex development
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
Published in Journal of medical genetics (01.07.2019)
Published in Journal of medical genetics (01.07.2019)
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Journal Article
SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections
Micha, Dimitra, Guo, Dong-chuan, Hilhorst-Hofstee, Yvonne, van Kooten, Fop, Atmaja, Dian, Overwater, Eline, Cayami, Ferdy K., Regalado, Ellen S., van Uffelen, René, Venselaar, Hanka, Faradz, Sultana M.H., Vriend, Gerrit, Weiss, Marjan M., Sistermans, Erik A., Maugeri, Alessandra, Milewicz, Dianna M., Pals, Gerard, van Dijk, Fleur S.
Published in Human mutation (01.12.2015)
Published in Human mutation (01.12.2015)
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Journal Article
Osteogenic transdifferentiation of primary human fibroblasts to osteoblast-like cells with human platelet lysate
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
Published in Scientific reports (29.08.2022)
Published in Scientific reports (29.08.2022)
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Journal Article
Differences in thrombin and plasmin generation potential between East African and Western European adults: The role of genetic and non‐genetic factors
Temba, Godfrey S., Vadaq, Nadira, Wan, Jun, Kullaya, Vesla, Huskens, Dana, Pecht, Tal, Jaeger, Martin, Boahen, Collins K., Matzaraki, Vasiliki, Broeders, Wieteke, Joosten, Leo A. B., Faradz, Sultana M. H., Kibiki, Gibson, Middeldorp, Saskia, Cavalieri, Duccio, Lionetti, Paolo, Groot, Philip G., Schultze, Joachim L., Netea, Mihai G., Kumar, Vinod, de Laat, Bas, Mmbaga, Blandina T., van der Ven, Andre J., Roest, Mark, de Mast, Quirijn
Published in Journal of thrombosis and haemostasis (01.05.2022)
Published in Journal of thrombosis and haemostasis (01.05.2022)
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Journal Article