Poh San Lai

Collaboration Map View Statistics Email Alert RSS Feed

Full Name

Poh San Lai

Variants

Lai, P.
Lai, P.-S.
Poh, S.L.
San, L.P.
Lai, P.S.

Main Affiliation

PAEDIATRICS

Faculty

YONG LOO LIN SCHOOL OF MEDICINE

paelaips@nus.edu.sg

Refined By:

Subject: Humans

Results 1-5 of 5 (Search time: 0.006 seconds).

Refman EndNote Bibtex RefWorks Excel CSV PDF Send via email

	Issue Date	Title	Author(s)
1	1-Dec-2022	Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report	Iskandar, K; Sunartini; Astari, FN; Gumilang, RA; Ilma, N; Shartyanie, NP; Adistyawan, G; Tan, G ; Gunadi; Lai, PS
2	2017	Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling	Tomar S. ; Sethi R. ; Sundar G.; Quah T.C. ; Quah B.L. ; Lai P.S.
3	1-Dec-2022	Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys	Hettiarachchi, D; Subasinghe, SMV; Anandagoda, GG; Panchal, H; Lai, PS ; Dissanayake, VHW
4	2018	NRG1 variant effects in patients with Hirschsprung disease	Gunadi, Budi N.Y.P.; Sethi R. ; Fauzi A.R.; Kalim A.S.; Indrawan T.; Iskandar K.; Makhmudi A.; Adrianto I.; San L.P.LL
5	1-Sep-2019	Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing	Tomar, S ; Sethi, R; Lai, PS