E-LIB Suche - Ergebnisse für: Tan, Tiong Yang

1

Narrowing the diagnostic gap: Genomes, episignatures, long-..:

Dias, Kerith-Rae ; Shrestha, Rupendra ; Schofield, Deborah...
Genetics in Medicine. 26 (2024) 5 - p. 101076 , 2024

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

2

How the Australian Functional Genomics Network (AFGN) contr..:

Scott, Hamish S. ; Matotek, Ebony ; Mattiske, Tessa...
Pathology. 56 (2024) - p. S21-S22 , 2024

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

3

MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man t..:

Post, Merel A. ; de Wit, Isis ; Zijlstra, Fokje S. M....
Journal of Inherited Metabolic Disease. 46 (2023) 2 - p. 313-325 , 2023

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

4

Pathogenic variants in the paired-related homeobox 1 gene (..:

Tooze, Rebecca S. ; Miller, Kerry A. ; Swagemakers, Sigrid M.A....
Genetics in Medicine. 25 (2023) 9 - p. 100883 , 2023

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

5

Intellectual Functioning of Children With Isolated PRS, PRS..:

Malarbi, Stephanie ; Chisholm, Anita K. ; Gunn-Charlton, Julia K....
The Cleft Palate Craniofacial Journal. 61 (2022) 1 - p. 33-39 , 2022

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

6

Comparing saliva and blood for the detection of mosaic geno..:

Francis, David I. ; Stark, Zornitza ; Scheffer, Ingrid E....
European Journal of Human Genetics. 31 (2022) 5 - p. 521-525 , 2022

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

7

The diverse pleiotropic effects of spliceosomal protein PUF..:

Fennell, Andrew Paul ; Baxter, Anne Elizabeth ; Berkovic, Samuel Frank...
American Journal of Medical Genetics Part A. 188 (2022) 12 - p. 3432-3447 , 2022

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

8

Clinical lesson learned from genetic analysis in patients p..:

Listyasari, Nurin A. ; Robevska, Gorjana ; Ayers, Katie L....
Asian Journal of Urology. 9 (2022) 2 - p. 186-189 , 2022

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

9

The chromatin remodeler ISWI acts duringDrosophiladevelopme..:

Gong, Naihua N. ; Dilley, Leela Chakravarti ; Williams, Charlette E....
Science Advances. 7 (2021) 8 - p. , 2021

Link: https://doi.org/10.1126/..

10

Cognitive, academic, and behavioral functioning in school-a..:

Burnett, Alice C. ; Gunn-Charlton, Julia K. ; Malarbi, Stephanie...
Journal of Pediatric Surgery. 56 (2021) 10 - p. 1737-1744 , 2021

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

11

Galactose treatment of a PGM1 patient presenting with restr..:

Donoghue, Sarah E. ; White, Susan M. ; Tan, Tiong Yang...
JIMD Reports. 57 (2020) 1 - p. 29-37 , 2020

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

12

Correction: KAT6A Syndrome: genotype–phenotype correlation ..:

Kennedy, Joanna ; Goudie, David ; Blair, Edward...
Genetics in Medicine. 22 (2020) 11 - p. 1920 , 2020

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

13

Parental experiences and genetic counsellor roles in Pierre..:

Sandow, Rhiannon ; Kilpatrick, Nicky M. ; Tan, Tiong Yang..
Journal of Community Genetics. 11 (2020) 4 - p. 475-484 , 2020

Link: https://doi.org/10.1007/..

14

Rapid mitochondrial genome (MTDNA) sequencing: facilitating..:

Akesson, Lauren S. ; Eggers, Stefanie ; Chong, Belinda...
Pathology. 51 (2019) - p. S118-S119 , 2019

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

15

A head-to-head evaluation of the diagnostic efficacy and co..:

Tan, Tiong Yang ; Lunke, Sebastian ; Chong, Belinda...
European Journal of Human Genetics. 27 (2019) 12 - p. 1791-1799 , 2019

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