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1 . Academic Journal
Germline AGO2 mutations impair RNA interference and human neurological development
저자
by
Davor Lessel
;
Daniela M. Zeitler
;
Margot R. F. Reijnders
;
Andriy Kazantsev
;
Fatemeh Hassani Nia
, et al.
소스
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
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7 . Academic Journal
A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement
저자
by
Ene‐Choo Tan
;
Shi Yun Chia
;
Khadijah Rafi’ee
;
Shan Xian Lee
;
Andrew Boon Eu Kwek
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 10, Iss 1, Pp n/a-n/a (2022)
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7 . Academic Journal
Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype [version 2; peer review: 2 approved]
저자
by
Hui Li Kwong
;
Yong-Kwang Tay
;
Ene-Choo Tan
.
소스
F1000Research, Vol 10 (2021)
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5 . Academic Journal
Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype [version 1; peer review: 2 approved]
저자
by
Hui Li Kwong
;
Yong-Kwang Tay
;
Ene-Choo Tan
.
소스
F1000Research, Vol 10 (2021)
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Scopus
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5 . Academic Journal
Dataset on gene expression in the elderly after Mindfulness Awareness Practice or Health Education Program
저자
by
Hwee-Woon Lim
;
Woei-Yuh Saw
;
Lei Feng
;
Yuan-Kun Lee
;
Ratha Mahendran
, et al.
소스
Data in Brief, Vol 18, Iss , Pp 902-912 (2018)
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7 . Academic Journal
Correlation of cord blood telomere length with birth weight
저자
by
Siew-Peng Lee
;
Prakash Hande
;
George SH Yeo
;
Ene-Choo Tan
.
소스
BMC Research Notes, Vol 10, Iss 1, Pp 1-6 (2017)
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6 . Academic Journal
Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.
저자
by
Maggie Brett
;
John McPherson
;
Zhi Jiang Zang
;
Angeline Lai
;
Ee-Shien Tan
, et al.
소스
PLoS ONE, Vol 9, Iss 4, p e93409 (2014)
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7 . Academic Journal
Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia.
저자
by
Goh, Jeannette
;
Heming Wei
;
Lai, Angeline H. M.
;
Chang, Benjamin
;
Khan, Shazia
, et al.
소스
Clinical Dysmorphology; Apr2024, Vol. 33 Issue 2, p63-68, 6p
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7 . Academic Journal
Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes.
저자
by
Heming Wei
;
Lai, Angeline
;
Ee Shien Tan
;
Koh, Mark Jean Aan
;
Ng, Ivy
, et al.
소스
Archives of Disease in Childhood; Jan2021, Vol. 106 Issue 1, p38-43, 6p
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7 .
Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia
저자
by
Elyn Y.-L. Tzen
;
Jiin Yin Lim
;
Sue Mei Cheah
;
Jonathan T.L. Choo
;
Sylvia Kam
, et al.
소스
Molecular Syndromology
. 14:21-29
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