Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Chew Yin Jasmine Goh"'
Autor:
Melissa Song Ting Wong, Terrence Thomas, Jiin Ying Lim, Sylvia Kam, Jing Xian Teo, Jianhong Ching, Chew Yin Jasmine Goh, Saumya Shekhar Jamuar, Weng Khong Lim, Ai Ling Koh
Publikováno v:
Clinical Dysmorphology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51a15c65775ebc5c1b570c156ee07bca
https://doi.org/10.1097/mcd.0000000000000457
https://doi.org/10.1097/mcd.0000000000000457
Autor:
Nikki Fong, Saumya Shekhar Jamuar, Jiin Ying Lim, Chew-Yin Jasmine Goh, Heming Wei, Sylvia Kam, Ene-Choo Tan
Publikováno v:
American Journal of Medical Genetics Part A. 188:672-675
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9100583175008592d7bbf130b60b56c4
https://doi.org/10.1002/ajmg.a.62555
https://doi.org/10.1002/ajmg.a.62555
Autor:
Angeline Lai, Mark Jean Aan Koh, Jiin Ying Lim, Chew Yin Jasmine Goh, Heming Wei, Ene-Choo Tan, Ee Shien Tan, Terrence Thomas, Sylvia Kam, Ivy Ng, Teck Wah Ting, Breana Cham, Derrick Chan, Saumya Shekhar Jamuar, Maggie Brett, Grace Lin
Publikováno v:
Archives of Disease in Childhood. 106:38-43
ObjectiveTo test the utility and diagnostic yield of a medical-exome gene panel for identifying pathogenic variants in Mendelian disorders.MethodsNext-generation sequencing was performed with the TruSight One gene panel (targeting 4813 genes) followe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::64200d96fe7662b6a40179fd70fdbd74
https://doi.org/10.1136/archdischild-2020-319177
https://doi.org/10.1136/archdischild-2020-319177
Autor:
Breana Cham, Jiin Ying Lim, Wendy K.M. Liew, Yuen-Ming Tan, Jyn-Ling Kuan, Bruno Reversades, Raman Sethi, Alvin Yu Jin Ng, Nathalie Escande-Beillard, Alexander Lezhava, Sumanty Tohari, Heming Wei, Arun George Devasia, Deepa Subramanian, Sylvia Kam, Woei Kang Liew, Min Xie, Kanika Jain, Saumya Shekhar Jamuar, Hai-Yang Law, Ee Shien Tan, Nilesh R. Tawari, Swati Tomar, Ene-Choo Tan, Ivy Ng, Carine Bonnard, Grace Lin, Angeline Lai, Chew Yin Jasmine Goh, Perumal Dharuman, Poh San Lai, Arthi Shanmugasundaram, Huilin Chin, Neha Singh Bhatia, Denise L.M. Goh, Maggie Brett, Célia Bosso-Lefèvre, Grace K. Tan, Teck Wah Ting, Roger Foo, Sarah B Ng, Cheuk Ka Tong, Byrappa Venkatesh, Zenia Tiang
Publikováno v:
Archives of Disease in Childhood. 106:31-37
ObjectiveUse next-generation sequencing (NGS) technology to improve our diagnostic yield in patients with suspected genetic disorders in the Asian setting.DesignA diagnostic study conducted between 2014 and 2019 (and ongoing) under the Singapore Undi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9bba7015302a03439efc4b46889a6c9
https://doi.org/10.1136/archdischild-2020-319180
https://doi.org/10.1136/archdischild-2020-319180
Autor:
Yuen Ming Tan, Wendy Low, Hui Jing Ee, Weng Khong Lim, Ene-Choo Tan, Jiin Ying Lim, Angeline Lai, Juin Yee Kong, Teck Wah Ting, Hai-Yang Law, Ivy Ng, Nikki Fong, Ee Shien Tan, Ai Ling Koh, Chew Yin Jasmine Goh, Jyn Ling Kuan, Saumya Shekhar Jamuar, Heming Wei, Sylvia Kam, Leng Kee Ching, Breana Cham, Lik Eng Loh
Objective: Use rapid next-generation sequencing (NGS) to improve our diagnostic yield in critically ill paediatric patients with suspected genetic disorders in the Asian setting.Design: A diagnostic study conducted between April 2018 and January 2019
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::129c65a6a236ebe7e845df4928c37b44
https://doi.org/10.21203/rs.3.rs-384663/v1
https://doi.org/10.21203/rs.3.rs-384663/v1
Autor:
Terrence Thomas, Saumya Shekhar Jamuar, Janardhan Krishnappa, Chew-Yin Jasmine Goh, Jiin Ying Lim, Nirmal Visrusthan Kavalloor, Grace Lin, Heming Wei, Ene-Choo Tan
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b460d6332fce8f7be7a7b14bc293eb51
https://pubmed.ncbi.nlm.nih.gov/31833200
https://pubmed.ncbi.nlm.nih.gov/31833200
Autor:
Caroline C P Ong, Ivy Ng, Rashida Farhad Vasanwala, Jiin Ying Lim, Chun Yi Ting, Wan Tew Seow, Vincent Yeow, Neha Singh Bhatia, Chew-Yin Jasmine Goh, Saumya Shekhar Jamuar, Teck Wah Ting
Publikováno v:
European Journal of Medical Genetics. 63:103652
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of short stature, microtia and absent or small patellae. We report on a patient with MGS secondary to biallelic mutations in CDC45 detected on whole exome s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::535de28a25761bd7b096959c3798d270
https://doi.org/10.1016/j.ejmg.2019.04.009
https://doi.org/10.1016/j.ejmg.2019.04.009
Autor:
Heming Wei, Lai, Angeline, Ee Shien Tan, Koh, Mark Jean Aan, Ng, Ivy, Teck Wah Ting, Thomas, Terrence, Cham, Breana, Jiin Ying Lim, Kam, Sylvia, Chew Yin Jasmine Goh, Grace Lin, Brett, Maggie, Chan, Derrick, Jamuar, Saumya Shekhar, Ene-Choo Tan, Wei, Heming, Tan, Ee Shien, Ting, Teck Wah, Lim, Jiin Ying
Publikováno v:
Archives of Disease in Childhood; Jan2021, Vol. 106 Issue 1, p38-43, 6p
Autor:
Bhatia, Neha S., Jiin Ying Lim, Bonnard, Carine, Jyn-Ling Kuan, Brett, Maggie, Heming Wei, Breana Cham, Huilin Chin, Bosso-Lefevre, Celia, Dharuman, Perumal, Escande-Beillard, Nathalie, Devasia, Arun George, Chew Yin Jasmine Goh, Kam, Sylvia, Liew, Wendy Kein-Meng, Woei Kang Liew, Grace Lin, Kanika Jain, Alvin Yu-Jin Ng, Subramanian, Deepa
Publikováno v:
Archives of Disease in Childhood; Jan2021, Vol. 106 Issue 1, p31-37, 7p