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1 . Academic Journal
A novel intronic variant in ROBO3 associated with horizontal gaze palsy with progressive scoliosis: case report and literature review.
저자
by
Sim, Bryan
;
Ng, Janice Wan Zhen
;
Sim, Donald Yuhui
;
Goh, Jeannette
;
Kam, Sylvia
, et al.
소스
Journal of AAPOS; Dec2023, Vol. 27 Issue 6, p359-363, 5p
Full Text (Clinical Key)
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7 . Academic Journal
Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes.
저자
by
Fan, Qiao
;
Li, Hengtong
;
Wang, Xiaomeng
;
Tham, Yih-Chung
;
Teo, Kelvin Yi Chong
, et al.
소스
Nature Communications; 9/11/2023, Vol. 14 Issue 1, p1-14, 14p
Scopus
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7 . Academic Journal
DEGS1 -related leukodystrophy: a clinical report and review of literature.
저자
by
Wong, Melissa Song Ting
;
Thomas, Terrence
;
Lim, Jiin Ying
;
Kam, Sylvia
;
Teo, Jing Xian
, et al.
소스
Clinical Dysmorphology; Jul2023, Vol. 32 Issue 3, p106-111, 6p
Full Text (LWW)
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7 . Academic Journal
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
저자
by
Chan, Sock Hoai
;
Bylstra, Yasmin
;
Teo, Jing Xian
;
Kuan, Jyn Ling
;
Bertin, Nicolas
, et al.
소스
Nature Communications; 11/5/2022, Vol. 13 Issue 1, p1-15, 15p
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7 . Academic Journal
Family history assessment significantly enhances delivery of precision medicine in the genomics era.
저자
by
Bylstra, Yasmin
;
Lim, Weng Khong
;
Kam, Sylvia
;
Tham, Koei Wan
;
Wu, R. Ryanne
, et al.
소스
Genome Medicine
. 7/5/2021, Vol. 13 Issue 1, p1-11. 11p.
Open Access (BioMed Central)
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7 . Academic Journal
Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population.
저자
by
Chang, Xuling
;
Gurung, Resham L.
;
Wang, Ling
;
Jin, Aizhen
;
Li, Zheng
, et al.
소스
Communications Biology
. 5/3/2021, Vol. 4 Issue 1, p1-9. 9p.
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7 . Academic Journal
Investigation into the origins of an ancient BRCA1 founder mutation identified among Chinese families in Singapore.
저자
by
Shaw, Tarryn
;
Chan, Sock Hoai
;
Teo, Jing Xian
;
Chong, Siao Ting
;
Li, Shao‐Tzu
, et al.
소스
International Journal of Cancer; Feb2021, Vol. 148 Issue 3, p637-645, 9p
Full Text (Wiley)
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7 . Academic Journal
Association of NOTCH2NLC Repeat Expansions With Parkinson Disease.
저자
by
Ma, Dongrui
;
Tan, Yi Jayne
;
Ng, Adeline S. L.
;
Ong, Helen L.
;
Sim, Weiying
, et al.
소스
JAMA Neurology; Dec2020, Vol. 77 Issue 12, p1559-1563, 5p
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7 . Academic Journal
Phenotypic bases of NOTCH2NLC GGC expansion positive neuronal intranuclear inclusion disease in a Southeast Asian cohort.
저자
by
Chen, Zhiyong
;
Xu, Zheyu
;
Cheng, Qianhui
;
Tan, Yi Jayne
;
Ong, Helen L.
, et al.
소스
Clinical Genetics
. Sep2020, Vol. 98 Issue 3, p274-281. 8p.
Scopus
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7 . Academic Journal
NOTCH2NLC GGC Repeat Expansions Are Associated with Sporadic Essential Tremor: Variable Disease Expressivity on Long-Term Follow-up.
저자
by
Ng, Adeline S. L.
;
Lim, Weng Khong
;
Xu, Zheyu
;
Ong, Helen L.
;
Tan, Yi Jayne
, et al.
소스
Annals of Neurology
. Sep2020, Vol. 88 Issue 3, p614-618. 5p.
Full Text (Wiley)
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