E-LIB Suche - Ergebnisse für: Ng, Alvin Yu Jin

1

Inactivation of DRG1, encoding a translation factor GTPase,..:

Westrip, Christian A.E. ; Paul, Franziska ; Al-Murshedi, Fathiya...
Genetics in Medicine. 25 (2023) 9 - p. 100893 , 2023

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

2

Ermin deficiency leads to compromised myelin, inflammatory ..:

Ziaei, Amin ; Garcia‐Miralles, Marta ; Radulescu, Carola I....
Brain Pathology. 32 (2022) 5 - p. , 2022

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

3

A loss-of-function NUAK2 mutation in humans causes anenceph..:

Bonnard, Carine ; Navaratnam, Naveenan ; Ghosh, Kakaly...
Journal of Experimental Medicine. 217 (2020) 12 - p. , 2020

Link: https://doi.org/10.1084/..

4

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/..

5

Bone matrix hypermineralization associated with low bone tu..:

Shboul, Mohammad ; Roschger, Paul ; Ganger, Rudolf...
Bone. 123 (2019) - p. 48-55 , 2019

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

6

Cenani-Lenz syndactyly syndrome - a case report of a family..:

Hettiaracchchi, Dineshani ; Bonnard, Carine ; Jayawardana, S. M. A....
BMC Medical Genetics. 19 (2018) 1 - p. , 2018

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

7

Whole exome sequencing identifies recessive germline mutati..:

Chan, Jason Yongsheng ; Ng, Alvin Yu Jin ; Cheng, Chee Leong...
Blood Cancer Journal. 8 (2018) 11 - p. , 2018

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

8

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/..

9

A deleterious recessive mutation in NUAK2 causes absence of..:

Ghosh, Kakaly ; Navaratnam, Naveenan ; Chan, Puck Wee...
Mechanisms of Development. 145 (2017) - p. S29-S30 , 2017

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

10

Reversal of Phenotypic Abnormalities by CRISPR/Cas9-Mediate..:

Xu, Xiaohong ; Tay, Yilin ; Sim, Bernice...
Stem Cell Reports. 8 (2017) 3 - p. 619-633 , 2017

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

11

Mutated NS1-BP causes segmental premature ageing of skin an..:

Bonnard, Carine ; Ali, Nur'Ain Binte ; Shboul, Mohammad...
Mechanisms of Development. 145 (2017) - p. S16-S17 , 2017

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

12

A novel ICK mutation causes ciliary disruption and lethal e..:

Oud, Machteld M. ; Bonnard, Carine ; Mans, Dorus A....
Cilia. 5 (2016) 1 - p. , 2016

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

13

Functional analysis of germline VANGL2 variants using rescu..:

Derrick, Christopher J ; Szenker-Ravi, Emmanuelle ; Santos-Ledo, Adrian...
Human Molecular Genetics. 33 (2023) 2 - p. 150-169 , 2023

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

14

Variant landscape of the RYR1 gene based on whole genome se..:

Foo, Claribel Tian Yu ; To, Yi Hui ; Irwanto, Astrid...
Scientific Reports. 12 (2022) 1 - p. , 2022

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

15

Publisher Correction: Discovery of a genetic module essenti..:

Szenker-Ravi, Emmanuelle ; Ott, Tim ; Khatoo, Muznah...
Nature Genetics. 54 (2022) 6 - p. 906-906 , 2022

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