Výsledky vyhledávání - Jamuar, Saumya Shekhar

Clinical application of next-generation sequencing for Mendelian diseases Autor Jamuar, Saumya Shekhar, Tan, Ene-Choo

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Transforming paediatric practice by leveraging on genomic medicine Autor Koh, Ai Ling, Jamuar, Saumya Shekhar, Lai, Angeline Hwei Meeng

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Editorial: AI in Healthcare: From Data to Intelligence Autor Hulsen, Tim, Petkovic, Milan, Varga, Orsolya Edit, Jamuar, Saumya Shekhar

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Feeding difficulty in an infant: an unusual cause Autor Qadri, Syeda Kashfi, Logarajah, Veena, Nah, Shireen Anne, Jamuar, Saumya Shekhar

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AB093. Report of a SMARCA4 variant identified in a patient with Coffin-Siris syndrome Autor Loke, Mun Fai, Jamuar, Saumya Shekhar, Lim, Eileen Chew Ping, Tan, Ene Choo

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AB118. Validation of next generation sequencing by Sanger sequencing Autor Low, Meow Hong Wendy, Lai, Hwei Meeng Angeline, Jamuar, Saumya Shekhar, Law, Hai Yang

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The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome Autor Koh, Ai‐Ling, Tan, Ee‐Shien, Brett, Maggie S., Lai, Angeline H. M., Jamuar, Saumya Shekhar, Ng, Ivy, Tan, Ene‐Choo

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AB097. Clinical and molecular characterization of patients with 6p25 deletion syndrome Autor Lim, Jiin Ying, Jamuar, Saumya Shekhar, Cham, Breana Wen Min, Brett, Maggie, Tan, Ee Shien, Ng, Ivy, Law, Hai Yang, Tan, Ene Choo, Lai, Angeline Hwei Meeng

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Implementation of genomics in medical practice to deliver precision medicine for an Asian population Autor Bylstra, Yasmin, Davila, Sonia, Lim, Weng Khong, Wu, Ryanne, Teo, Jing Xian, Kam, Sylvia, Lysaght, Tamra, Rozen, Steve, Teh, Bin Tean, Yeo, Khung Keong, Cook, Stuart A., Tan, Patrick, Jamuar, Saumya Shekhar

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Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine? Autor Jamuar, Saumya Shekhar, Kuan, Jyn Ling, Brett, Maggie, Tiang, Zenia, Tan, Wilson Lek Wen, Lim, Jiin Ying, Liew, Wendy Kein Meng, Javed, Asif, Liew, Woei Kang, Law, Hai Yang, Tan, Ee Shien, Lai, Angeline, Ng, Ivy, Teo, Yik Ying, Venkatesh, Byrappa, Reversade, Bruno, Tan, Ene Choo, Foo, Roger

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Family history assessment significantly enhances delivery of precision medicine in the genomics era Autor Bylstra, Yasmin, Lim, Weng Khong, Kam, Sylvia, Tham, Koei Wan, Wu, R. Ryanne, Teo, Jing Xian, Davila, Sonia, Kuan, Jyn Ling, Chan, Sock Hoai, Bertin, Nicolas, Yang, Cheng Xi, Rozen, Steve, Teh, Bin Tean, Yeo, Khung Keong, Cook, Stuart Alexander, Jamuar, Saumya Shekhar, Ginsburg, Geoffrey S., Orlando, Lori A., Tan, Patrick

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Correction to: Family history assessment significantly enhances delivery of precision medicine in the genomics era Autor Bylstra, Yasmin, Lim, Weng Khong, Kam, Sylvia, Tham, Koei Wan, Wu, R. Ryanne, Teo, Jing Xian, Davila, Sonia, Kuan, Jyn Ling, Chan, Sock Hoai, Bertin, Nicolas, Yang, Cheng Xi, Rozen, Steve, Teh, Bin Tean, Yeo, Khung Keong, Cook, Stuart Alexander, Jamuar, Saumya Shekhar, Ginsburg, Geoffrey S., Orlando, Lori A., Tan, Patrick

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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis Autor Gueneau, Lucie, Fish, Richard J., Shamseldin, Hanan E., Voisin, Norine, Tran Mau-Them, Frédéric, Preiksaitiene, Egle, Monroe, Glen R., Lai, Angeline, Putoux, Audrey, Allias, Fabienne, Ambusaidi, Qamariya, Ambrozaityte, Laima, Cimbalistienė, Loreta, Delafontaine, Julien, Guex, Nicolas, Hashem, Mais, Kurdi, Wesam, Jamuar, Saumya Shekhar, Ying, Lim J., Bonnard, Carine, Pippucci, Tommaso, Pradervand, Sylvain, Roechert, Bernd, van Hasselt, Peter M., Wiederkehr, Michaël, Wright, Caroline F., Xenarios, Ioannis, van Haaften, Gijs, Shaw-Smith, Charles, Schindewolf, Erica M., Neerman-Arbez, Marguerite, Sanlaville, Damien, Lesca, Gaëtan, Guibaud, Laurent, Reversade, Bruno, Chelly, Jamel, Kučinskas, Vaidutis, Alkuraya, Fowzan S., Reymond, Alexandre

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Turner syndrome in Diverse Populations Autor 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

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Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients Autor Pua, Chee Jian, Tham, Nevin, Chin, Calvin W.L., Walsh, Roddy, Khor, Chiea Chuen, Toepfer, Christopher N., Repetti, Giuliana G., Garfinkel, Amanda C., Ewoldt, Jourdan K., Cloonan, Paige, Chen, Christopher S., Lim, Shi Qi, Cai, Jiashen, Loo, Li Yang, Kong, Siew Ching, Chiang, Charleston W.K., Whiffin, Nicola, de Marvao, Antonio, Lio, Pei Min, Hii, An An, Yang, Cheng Xi, Le, Thu Thao, Bylstra, Yasmin, Lim, Weng Khong, Teo, Jing Xian, Padilha, Kallyandra, Silva, Gabriela V., Pan, Bangfen, Govind, Risha, Buchan, Rachel J., Barton, Paul J.R., Tan, Patrick, Foo, Roger, Yip, James W.L., Wong, Raymond C.C., Chan, Wan Xian, Pereira, Alexandre C., Tang, Hak Chiaw, Jamuar, Saumya Shekhar, Ware, James S., Seidman, Jonathan G., Seidman, Christine E., Cook, Stuart A.

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