检索结果 - Sihombing, Nydia

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

获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

Turner syndrome in Diverse Populations 由 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

获取全文 获取全文 获取全文