E-LIB Suche - Ergebnisse für: Chakraborty, Pranesh K

1

Early hearing detection and intervention in Canada:

Khurana, Puneeta ; Cushing, Sharon L ; Chakraborty, Pranesh K...
Paediatrics & Child Health. 26 (2020) 3 - p. 141-144 , 2020

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

2

Health-care providers' perspectives on uncertainty generate..:

Azzopardi, Paul J. ; Upshur, Ross ; Luca, Stephanie...
Genetics in Medicine. 22 (2020) 3 - p. 566-573 , 2020

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

3

Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS..:

Liwak-Muir, Urszula ; Mamady, Hapsatou ; Naas, Turaya...
Orphanet Journal of Rare Diseases. 11 (2016) 1 - p. , 2016

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

4

ERK8 is a novel HuR kinase that regulates tumour suppressor..:

Liwak-Muir, Urszula ; Dobson, Christine C. ; Naing, Thet...
Oncotarget. 7 (2015) 2 - p. 1439-1450 , 2015

Link: https://doi.org/10.18632..

5

Gender‐specific differences in the psychosocial adjustment ..:

Tomiak, Eva M. ; Samson, Andre ; Miles, Sarah A....
Qualitative Research Journal. 7 (2007) 2 - p. 2-21 , 2007

Link: https://doi.org/10.3316/..

6

Severe Phenotype of Phosphorylase Kinase-Deficient Liver Gl..:

Burwinkel, Barbara ; Rootwelt, Terje ; Kvittingen, Eli Anne..
Pediatric Research. 54 (2003) 6 - p. 834-839 , 2003

Link: https://doi.org/10.1203/..

7

Mutations in TRNT1 cause congenital sideroblastic anemia wi..:

Chakraborty, Pranesh K ; Schmitz-Abe, Klaus ; Kennedy, Erin K...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215314/. , 2014

Link: http://www.ncbi.nlm.nih...

8

Co-developing The Canadian MPS Registry: A longitudinal rar..:

Mitchell, John J. ; Inbar-Feigenberg, Michal ; Angel, Kim...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107964 , 2024

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

9

Co-developing longitudinal patient registries for phenylket..:

Adams, John ; Angel, Kim ; Mitchell, John J....
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108203 , 2024

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

10

Ethical and practical considerations related to data sharin..:

Vanderhout, Shelley ; Potter, Beth K. ; Smith, Maureen...
Quality of Life Research. 32 (2023) 8 - p. 2319-2328 , 2023

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

11

Development of a core outcome set for mucopolysaccharidoses..:

Howie, Alison H. ; Wyatt, Alexandra ; Inbar-Feigenberg, Michal...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107154 , 2023

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

12

Development and external validation of machine learning alg..:

Hawken, Steven ; Ducharme, Robin ; Murphy, Malia S. Q....
PLOS ONE. 18 (2023) 3 - p. e0281074 , 2023

Link: https://doi.org/10.1371/..

13

The mitochondrial tRNA MT‐TW m.5537_5538insT variant presen..:

Strasser, Lauren ; Doja, Asif ; Davila, Jorge..
American Journal of Medical Genetics Part A. 191 (2023) 12 - p. 2890-2897 , 2023

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

14

Validation of gestational age determination from ultrasound..:

Hawken, Steven ; Olibris, Brieanne ; Ducharme, Robin...
AJOG Global Reports. 2 (2022) 4 - p. 100091 , 2022

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

15

Real world external validation of metabolic gestational age..:

Hawken, Steven ; Ward, Victoria ; Bota, A. Brianne...
PLOS Global Public Health. 2 (2022) 11 - p. e0000652 , 2022

Link: https://doi.org/10.1371/..