Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Neha Singh Bhatia"'
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:
Poh Choo Khoo, Jiin Ying Lim, Rashida Farhad Vasanwala, Neha Singh Bhatia, Kevin Boon Leong Lim, Pui Ling Chay, Ulrike Schwarze, Saumya Shekhar Jamuar
Publikováno v:
Clinical Dysmorphology. 28:118-123
Osteogenesis imperfecta, is a genetically and clinically heterogeneous connective tissue disorder that disrupts bone architecture, making it fragile and more prone to fractures. While more than 85% of cases are due to variants in COL1A1 and COL1A2, v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6b7ae52dd5bf13d8d3e19fb3c493e89
https://doi.org/10.1097/mcd.0000000000000279
https://doi.org/10.1097/mcd.0000000000000279
Autor:
Saumya Shekhar Jamuar, Maggie Brett, Jonathan Tze Liang Choo, Angeline H. M. Lai, Ene-Choo Tan, Biju Thomas, Jiin Ying Lim, Hai-Yang Law, Neha Singh Bhatia
Publikováno v:
Clinical Dysmorphology. 28:53-56
Palumbo et al. (2015) reported a female with chromosome 12q24.31 microdeletion presenting with neurodevelopmental delay, seizures, intellectual disability, and dysmorphic features, who was also noted to have a patent foramen ovale requiring interatri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bdb96cf99debd65466e587135958d5b3
https://doi.org/10.1097/mcd.0000000000000245
https://doi.org/10.1097/mcd.0000000000000245
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
Publikováno v:
Child Neuropsychology. 12:87-110
The present study was designed to assess object identification ("what") and location ("where") skills among girls with fragile X or Turner syndrome and girls with neither disorder. Participants completed standardized subtests of visual perception and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24624eac097038a86d4b23fe35cfda1a
https://doi.org/10.1080/09297040500266951
https://doi.org/10.1080/09297040500266951