E-LIB Suche - Ergebnisse für: Bulman, Dennis E

1

Alberta Spinal Muscular Atrophy Newborn Screening—Results f..:

Niri, Farshad ; Nicholls, Jessie ; Baptista Wyatt, Kelly...
International Journal of Neonatal Screening. 9 (2023) 3 - p. 42 , 2023

Link: https://doi.org/10.3390/..

2

Correction to: Missense mutations in ITPR1 cause autosomal ..:

Huang, Lijia ; Warman-Chardon, Jodi ; Carter, Melissa T....
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

3

A Case Report of Myoclonus-Dystonia with Isolated Myoclonus..:

Besa Lehmann, Valentina ; Rosenbaum, Marc ; Bulman, Dennis E...
Neurology and Therapy. 9 (2020) 1 - p. 187-191 , 2020

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

4

Effects of fat mass and obesity-associated (FTO) gene polym..:

Cameron, Jameason D. ; Tasca, Giorgio A. ; Little, Julian...
Nutrition. 61 (2019) - p. 208-212 , 2019

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

5

Ataxia Telangiectasia Diagnosed on Newborn Screening–Case C..:

Mandola, Amarilla B. ; Reid, Brenda ; Sirror, Raga...
Frontiers in Immunology. 10 (2019) - p. , 2019

Link: https://doi.org/10.3389/..

6

An evaluation of genetic causes and environmental risks for..:

Chen, Andrew T. ; Brady, Lauren ; Bulman, Dennis E....
PLOS ONE. 14 (2019) 11 - p. e0225656 , 2019

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

7

Genetic Variation in the Ontario Neurodegenerative Disease ..:

Dilliott, Allison A. ; Evans, Emily C. ; Farhan, Sali M.K....
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 46 (2019) 5 - p. 491-498 , 2019

Link: https://doi.org/10.1017/..

8

Genotypes of chronic progressive external ophthalmoplegia i..:

Heighton, Julia N. ; Brady, Lauren I. ; Sadikovic, Bekim..
Mitochondrion. 49 (2019) - p. 227-231 , 2019

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

9

A family segregating lethal neonatal coenzyme Q10 deficienc..:

Smith, Amanda C. ; Ito, Yoko ; Ahmed, Afsana...
Journal of Inherited Metabolic Disease. 41 (2018) 4 - p. 719-729 , 2018

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

10

BAFopathies' DNA methylation epi-signatures demonstrate dia..:

Aref-Eshghi, Erfan ; Bend, Eric G. ; Hood, Rebecca L....
Nature Communications. 9 (2018) 1 - p. , 2018

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

11

Targeted Next-generation Sequencing and Bioinformatics Pipe..

JoVE : Genetics

Dilliott, Allison A. ; Farhan, Sali M.K. ; Ghani, Mahdi... , 2018

Link: https://www.jove.com/t/5..

12

Identifying the Genetic Basis of Vascular Cognitive Impairm..:

Dilliott, Allison A. ; Farhan, Sali M. ; McIntyre, Adam A....
Atherosclerosis Supplements. 32 (2018) - p. 80-81 , 2018

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

13

Quantification of DNA in Neonatal Dried Blood Spots by Aden..:

Durie, Danielle ; Yeh, Ed ; McIntosh, Nathan...
Analytical Chemistry. 90 (2017) 1 - p. 801-806 , 2017

Link: https://doi.org/10.1021/..

14

Compound heterozygous mutations in the gene PIGP are associ..:

Johnstone, Devon L. ; Nguyen, Thi-Tuyet-Mai ; Murakami, Yoshiko...
Human Molecular Genetics. 26 (2017) 9 - p. 1706-1715 , 2017

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

15

Syndrome disintegration: Exome sequencing reveals that Fitz..:

Armour, Christine M. ; Smith, Amanda ; Hartley, Taila...
American Journal of Medical Genetics Part A. 170 (2016) 7 - p. 1820-1825 , 2016

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