Výsledky vyhledávání

Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy

Autor: Poh Sim Low, Poh San Lai, Stacey Tay Kiat Hong, Vikaesh Moorthy, Swati Tomar, Raman Sethi, Josiah Chai

Publikováno v: American journal of medical genetics. Part C, Seminars in medical genetics. 181(2)

Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive disorders caused by mutations in the DMD gene. Emerging therapies targeting patients with specific mutations are now becoming a reality for many of these patients. Precise mole

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f22595d8eeb1b416c5c659e7db7ea3e
https://pubmed.ncbi.nlm.nih.gov/31081998

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Interpreting Parents' Concerns About Their Children's Development With the Parents Evaluation of Developmental Status

Autor: Maureen Neihart, Yiong Huak Chan, Poh Sim Low, Jennifer S.H. Kiing

Publikováno v: Journal of Developmental & Behavioral Pediatrics. 33:179-183

Objective This study explored the potential roles and utility of the Parents Evaluation of Developmental Status (PEDS) to screen children for developmental delays in a Southeast Asian clinical sample of preschool children. The PEDS is a 10-item quest

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c4d61c0303e1d7faa751742685ea1f8
https://doi.org/10.1097/dbp.0b013e31823f686e

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Factors Predictive of Outcome in Childhood Stroke in an Asian Population

Autor: Elizabeth H Tham, Stacey KH Tay, Poh Sim Low

Publikováno v: Annals of the Academy of Medicine, Singapore. 38:876-881

Introduction: While paediatric strokes are fairly uncommon, they are often associated with significant long-term disability. Diagnosis is often delayed because of the need to exclude condi- tions that mimic stroke. Understanding the outcomes related

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::43c4f6e80de0ee738091ef8300b18bfd
https://doi.org/10.47102/annals-acadmedsg.v38n10p876

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Spinal muscular atrophy: from gene discovery to clinical trials

Autor: Dian K, Nurputra, Poh San, Lai, Nur Imma F, Harahap, Satoru, Morikawa, Tomoto, Yamamoto, Noriyuki, Nishimura, Yuji, Kubo, Atsuko, Takeuchi, Toshio, Saito, Yasuhiro, Takeshima, Yumi, Tohyama, Stacey K H, Tay, Poh Sim, Low, Kayoko, Saito, Hisahide, Nishio

Publikováno v: Annals of human genetics. 77(5)

Spinal muscular atrophy (SMA) is a common neuromuscular disorder with autosomal recessive inheritance, resulting in the degeneration of motor neurons. The incidence of the disease has been estimated at 1 in 6000-10,000 newborns with a carrier frequen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1690fcfe44a61b3eec87973767bb0d2b
https://pubmed.ncbi.nlm.nih.gov/23879295

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Should non-expert clinician examiners be used in objective structured assessment of communication skills among final year medical undergraduates?

Autor: Poh Sim Low, Chun-Tao Wai, Benjamin Ong, Zubair Amin, Marion M. Aw, D R Koh, Chay Hoon Tan, Calvin S. L. Fones, Mee Lian Wong, Poh Sun Goh, Poo-Sing Wong, Paul A. Tambyah

Publikováno v: Medical teacher. 29(9)

Adoption of the objective structured clinical examination may be hindered by shortages of clinicians within a specialty. Clinicians from other specialties should be considered as alternative, non-expert examiners.We assessed the inter-rater agreement

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccba3244687b3a7d867e3323f41819b0
https://pubmed.ncbi.nlm.nih.gov/18158667

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