E-LIB Suche - Ergebnisse für: Lim, Jiin Ying

1

Analysis and visualisation of electronic health records dat..:

Moynihan, Daniel ; Monaco, Sean ; Ting, Teck Wah...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

2

Author Correction: Analysis and visualisation of electronic..:

Moynihan, Daniel ; Monaco, Sean ; Ting, Teck Wah...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

3

The IFITM5 Ser40Leu variant can manifest as prenatal Caffey..:

Yap, Jia Ying Celeste ; Lim, Jiin Ying ; Bhatia, Anju...
American Journal of Medical Genetics Part A. 194 (2023) 2 - p. 358-362 , 2023

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

4

Monozygotic twins with identical premature timing of acne o..:

Tan, Amanda S. H. ; Chia, Shi Yun ; Lim, Jiin Ying.
Australasian Journal of Dermatology. 64 (2023) 3 - p. , 2023

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

5

Clinical free text to HPO codes:

Stinton, Gabrielle ; Lieviant, Jane A. ; Kam, Sylvia...
Rare. 1 (2023) - p. 100007 , 2023

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

6

Fibrous dysplasia in cardio‐facio‐cutaneous syndrome: A cas..:

Dong, Xiaoao ; Png, Nicholas C. Y. ; Fortier, Marielle V....
American Journal of Medical Genetics Part A. 188 (2022) 9 - p. 2732-2737 , 2022

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

7

Reduced resource utilization with early use of next‐generat..:

Nazeha, Nuraini ; Koh, Ai Ling ; Kam, Sylvia...
American Journal of Medical Genetics Part A. 188 (2022) 12 - p. 3482-3491 , 2022

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

8

A recurrent, homozygous EMC10 frameshift variant is associa..:

Shao, Diane D. ; Straussberg, Rachel ; Ahmed, Hind...
Genetics in Medicine. 23 (2021) 6 - p. 1158-1162 , 2021

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

9

Clinical features of a male with a USP9X variant associated..:

Fong, Nikki ; Wei, Heming ; Lim, Jiin Ying...
American Journal of Medical Genetics Part A. 188 (2021) 2 - p. 672-675 , 2021

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

10

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase c..:

Hengel, Holger ; Bosso-Lefèvre, Célia ; Grady, George...
Nature Communications. 11 (2020) 1 - p. , 2020

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

11

Further delineation of CDC45-related Meier-Gorlin syndrome ..:

Ting, Chun Yi ; Bhatia, Neha Singh ; Lim, Jiin Ying...
European Journal of Medical Genetics. 63 (2020) 2 - p. 103652 , 2020

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

12

DISSEMINATED BACILLUS-CALMETTE-GUÉRIN INFECTIONS AND PRIMAR..:

Ong, Rina Yue Ling ; Chan, Su-Wan Bianca ; Chew, Siu Jun...
International Journal of Infectious Diseases. 97 (2020) - p. 117-125 , 2020

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

13

Heterozygous missense variant inEIF6gene: A novel form ofSh..:

Koh, Ai Ling ; Bonnard, Carine ; Lim, Jiin Ying...
American Journal of Medical Genetics Part A. 182 (2020) 9 - p. 2010-2020 , 2020

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

14

Microcephaly with a simplified gyral pattern in a child wit..:

Wei, Heming ; Krishnappa, Janardhan ; Lin, Grace...
American Journal of Medical Genetics Part A. 182 (2019) 3 - p. 576-578 , 2019

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

15

Novel mutations in the ciliopathy-associated gene CPLANE1 (..:

Bonnard, Carine ; Shboul, Mohammad ; Tonekaboni, Seyed Hassan...
European Journal of Medical Genetics. 61 (2018) 10 - p. 585-595 , 2018

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