Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia
Sihombing, Nydia Rena Benita, Winarni, Tri Indah, Leeuw, Nicole de, Bon, Bregje van, Bokhoven, Hans van, Faradz, Sultana MH
Published in Intractable & Rare Diseases Research (31.05.2023)
Published in Intractable & Rare Diseases Research (31.05.2023)
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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
Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation
Sihombing, Nydia Rena Benita, de Leeuw, Nicole, van Bokhoven, Hans, Faradz, Sultana MH
Published in BMJ case reports (01.08.2019)
Published in BMJ case reports (01.08.2019)
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Journal Article
Autosomal Recessive Limb Girdle Muscular Dystrophy In A Complex Consanguineous Family: The First Cases Series In Indonesia
Sihombing, Nydia Rena Benita, Listyasari, Nurin Aisyiyah, Faradz, Sultana MH
Published in Journal of biomedicine and translational research (Semarang) (31.12.2017)
Published in Journal of biomedicine and translational research (Semarang) (31.12.2017)
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Journal Article
Dilemma of presymptomatic testing in children with history of late onset neurodegenerative spinocerebellar ataxia in Indonesia
Sihombing, Nydia Rena Benita, Winarni, Tri Indah, Belladonna, Maria, Ediati, Annastasia, Faradz, Sultana MH
Published in Journal of biomedicine and translational research (Semarang) (28.04.2022)
Published in Journal of biomedicine and translational research (Semarang) (28.04.2022)
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Journal Article
Turner syndrome in diverse populations
Kruszka, Paul, Addissie, Yonit A., Tekendo‐Ngongang, Cedrik, Jones, Kelly L., Savage, Sarah K., Gupta, Neerja, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Aravena, Teresa, Nampoothiri, Sheela, Yesodharan, Dhanya, Girisha, Katta M., Patil, Siddaramappa Jagdish, Jamuar, Saumya Shekhar, Goh, Jasmine Chew‐Yin, Utari, Agustini, Sihombing, Nydia, Mishra, Rupesh, Chitrakar, Neer Shoba, Iriele, Brenda C., Lulseged, Ezana, Megarbane, Andre, Uwineza, Annette, Oyenusi, Elizabeth Eberechi, Olopade, Oluwarotimi Bolaji, Fasanmade, Olufemi Adetola, Duenas‐Roque, Milagros M., Thong, Meow‐Keong, Tung, Joanna Y. L., Mok, Gary T. K., Fleischer, Nicole, Rwegerera, Godfrey M., Herreros, María Beatriz, Watts, Johnathan, Fieggen, Karen, Huckstadt, Victoria, Moresco, Angélica, Obregon, María Gabriela, Hussen, Dalia Farouk, Ashaat, Neveen A., Ashaat, Engy A., Chung, Brian H. Y., Badoe, Eben, Faradz, Sultana M. H., El Ruby, Mona O., Shotelersuk, Vorasuk, Wonkam, Ambroise, Ekure, Ekanem Nsikak, Phadke, Shubha R., Richieri‐Costa, Antonio, Muenke, Maximilian
Published in American journal of medical genetics. Part A (01.02.2020)
Published in American journal of medical genetics. Part A (01.02.2020)
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Journal Article
Repeat expansion and methylation-sensitive triplet-primed polymerase chain reaction for fragile X mental retardation 1 gene screening in institutionalised intellectually disabled individuals
Sihombing, Nydia Rena Benita, Cai, Shiwei, Wong, Daphne Pei Wen, Guan, Ming, Chong, Samuel Siong-Chuan, Faradz, Sultana Muhammad Hussein, Winarni, Tri Indah
Published in Singapore medical journal (01.03.2021)
Published in Singapore medical journal (01.03.2021)
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Journal Article
AB060. A family with three children of rare intellectual disability syndrome
Pratamawati, Tiar, Sihombing, Nydia, Nauphar, Donny, Faradz, Sultana MH
Published in Annals of translational medicine (01.09.2017)
Published in Annals of translational medicine (01.09.2017)
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Journal Article
AB065. Genetic testing and counseling in family with late onset autosomal dominant spinocerebellar ataxia
Listyasari, Nurin Aisyiyah, Sihombing, Nydia Rena Benita, Winarni, Tri Indah, Belladona, Maria, Faradz, Sultana MH
Published in Annals of translational medicine (01.09.2017)
Published in Annals of translational medicine (01.09.2017)
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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 (2021)
Published in Intractable & Rare Diseases Research (2021)
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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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Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism
Sihombing, Nydia Rena Benita, Winarni, Tri Indah, van Bokhoven, Hans, van der Burgt, Ineke, de Leeuw, Nicole, Faradz, Sultana M H
Published in American journal of medical genetics. Part A (01.11.2020)
Published in American journal of medical genetics. Part A (01.11.2020)
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