Search Results - Sihombing, Nydia

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  1. 1
    AB060. A family with three children of rare intellectual disability syndrome

    AB060. A family with three children of rare intellectual disability syndrome by Pratamawati, Tiar, Sihombing, Nydia, Nauphar, Donny, Faradz, Sultana MH

    Published 2017
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  2. 2
    Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation

    Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation by Sihombing, Nydia Rena Benita, de Leeuw, Nicole, van Bokhoven, Hans, Faradz, Sultana MH

    Published 2019
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  3. 3
    AB065. Genetic testing and counseling in family with late onset autosomal dominant spinocerebellar ataxia

    AB065. Genetic testing and counseling in family with late onset autosomal dominant spinocerebellar ataxia by Listyasari, Nurin Aisyiyah, Sihombing, Nydia Rena Benita, Winarni, Tri Indah, Belladona, Maria, Faradz, Sultana MH

    Published 2017
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  4. 4
    Surveillance and prevalence of fragile X syndrome in Indonesia

    Surveillance and prevalence of fragile X syndrome in Indonesia by Sihombing, Nydia Rena Benita, Winarni, Tri Indah, Utari, Agustini, van Bokhoven, Hans, Hagerman, Randi J, Faradz, Sultana MH

    Published 2021
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  5. 5
    Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum

    Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum by Yuniati, Renni, Sihombing, Nydia Rena Benita, Nauphar, Donny, Tiawarman, Budi, Kartikasari, Diah Shinta, Dewi, Meira, Faradz, Sultana MH

    Published 2021
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  6. 6
    Repeat expansion and methylation-sensitive triplet-primed polymerase chain reaction for fragile X mental retardation 1 gene screening in institutionalised intellectually disabled individuals

    Repeat expansion and methylation-sensitive triplet-primed polymerase chain reaction for fragile X mental retardation 1 gene screening in institutionalised intellectually disabled i... by Sihombing, Nydia Rena Benita, Cai, Shiwei, Wong, Daphne Pei Wen, Guan, Ming, Chong, Samuel Siong-Chuan, Faradz, Sultana Muhammad Hussein, Winarni, Tri Indah

    Published 2021
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  7. 7
    Turner syndrome in Diverse Populations

    Turner syndrome in Diverse Populations by Kruszka, Paul, Addissie, Yonit A., Tekendo-Ngongang, Cedrik, Jones, Kelly L., Savage, Sarah K., Gupta, Neerja, Sirisena, Nirmala D., Cerda, Teresa E. Aravena, Nampoothiri, Sheela, Girisha, Katta M., Patil, Siddaramappa Jagdish, Jamuar, Saumya Shekhar, Utari, Agustini, Sihombing, Nydia, Mishra, Rupesh, Chitrakar, Neer Shoba, Iriele, Brenda, Lulseged, Ezana, Megarbane, Andre, Uwineza, Annette, Roque, Milagros M. Duenas, Thong, Meow-Keong, Moresco, Angélica, Obregon, María Gabriela, Ling, Tung Yuet, Mok, Gary TK, Fleischer, Nicole, Rwegerera, Godfrey, de Herreros, María Beatriz, Watts, Jonathan, Fieggen, Karen, Farouk, Dalia, Ashaat, Neveen A., Chung, Brian H.Y., Badoe, Eden, Faradz, Sultana MH, El-Ruby, Mona, Shotelersuk, Vorasuk, Wonkam, Ambroise, Ekure, Ekanem Nsikak, Richieri-Costa, Antonio, Muenke, Maximilian

    Published 2019
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