E-LIB Suche - Ergebnisse für: Tay, Stacey KH

1

Spinal Muscular Atrophy: From Gene Discovery to Clinical Tr..:

Nurputra, Dian K. ; Lai, Poh San ; Harahap, Nur Imma F....
Annals of Human Genetics. 77 (2013) 5 - p. 435-463 , 2013

Link: https://doi.org/10.1111/..

2

Simplified Molecular Diagnosis of Fragile X Syndrome by Flu..:

Chong, Samuel S ; Tay, Stacey KH ; Kiing, Jennifer...
Clinical Chemistry. 52 (2006) 8 - p. 1492-1500 , 2006

Link: https://doi.org/10.1373/..

3

Mitochondrial oxidative capacity and NAD biosynthesis are r..:

Migliavacca, Eugenia ; Tay, Stacey KH ; Patel, Harnish...
https://eprints.soton.ac.uk/436768/1/MS_00000002_.docx. , 2019

Link: https://eprints.soton.ac..

4

Aromatic L-amino acid decarboxylase deficiency: perspective..:

Tay, Stacey KH ; Wang, Furene SJ ; Lin, Jeremy BY
info:eu-repo/semantics/altIdentifier/doi/10.2147/PHMT.S34067. , 2013

Link: https://www.dovepress.co..

5

CISH and susceptibility to infectious diseases:

Khor, Chiea C ; Vannberg, Fredrik O ; Chapman, Stephen J...
https://researchonline.lshtm.ac.uk/id/eprint/3476/1/emss-52223.pdf. , 2010

Link: https://researchonline.l..

6

Gut microbiota changes in children with autism spectrum dis..:

Ho, Lucius Kang Hua ; Tong, Valerie Jia Wei ; Syn, Nicholas...
Gut Pathogens. 12 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

7

Responsiveness of sphingosine phosphate lyase insufficiency..:

Zhao, Piming ; Liu, Isaac D. ; Hodgin, Jeffrey B....
Journal of Inherited Metabolic Disease. 43 (2020) 5 - p. 1131-1142 , 2020

Link: https://doi.org/10.1002/..

8

First pediatric organ donation after circulatory determinat..:

Thong, Wen Yi ; Chong, Poh Heng ; Koh, Pei Lin..
Pediatric Transplantation. 24 (2020) 6 - p. , 2020

Link: https://doi.org/10.1111/..

9

Novel LRPPRC Mutation in a Boy With Mild Leigh Syndrome, Fr..:

Han, Velda Xinying ; Tan, Teresa S. ; Wang, Furene S..
Child Neurology Open. 4 (2017) - p. 2329048X1773763 , 2017

Link: https://doi.org/10.1177/..

10

Managing tuberous sclerosis in the Asia-Pacific region: Ref..:

Lawson, John A. ; Chan, Chi-Fung ; Chi, Ching-Shiang...
Journal of Clinical Neuroscience. 21 (2014) 7 - p. 1180-1187 , 2014

Link: https://doi.org/10.1016/..

11

SIL1 mutations and clinical spectrum in patients with Marin..:

Krieger, Michael ; Roos, Andreas ; Stendel, Claudia...
Brain. 136 (2013) 12 - p. 3634-3644 , 2013

Link: https://doi.org/10.1093/..

12

Headache diagnosis, disability and co-morbidities in a mult..:

Chong, S-C ; Chan, Y-H ; Ong, H-T..
Cephalalgia. 30 (2010) 8 - p. 953-961 , 2010

Link: https://doi.org/10.1177/..

13

Trigonelline is an NAD+ precursor that improves muscle func..:

Membrez, Mathieu ; Migliavacca, Eugenia ; Christen, Stefan...
Nature Metabolism. , 2024

Link: https://doi.org/10.1038/..

14

Mild Neurological Manifestations Associated With Severe Acu..:

Han, Velda X. ; Seet, Shannon M. ; Quek, Belinda X.Y....
Pediatric Neurology. 150 (2024) - p. 57-62 , 2024

Link: https://doi.org/10.1016/..

15

P719: SMN1 deletion and silent carrier screening for spinal..:

San Lai, Poh ; Chia, Grace ; Tan, Grace...
Genetics in Medicine Open. 2 (2024) - p. 101623 , 2024

Link: https://doi.org/10.1016/..