E-LIB Suche - Ergebnisse für: Kozenko, Mariya

1

Assessing the quality and value of metabolic chart data for..:

Iverson, Ryan ; Taljaard, Monica ; Geraghty, Michael T....
BMC Pediatrics. 24 (2024) 1 - p. , 2024

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

2

Defining the clinical phenotype of Saul–Wilson syndrome:

Ferreira, Carlos R. ; Zein, Wadih M. ; Huryn, Laryssa A....
Genetics in Medicine. 22 (2020) 5 - p. 857-866 , 2020

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

3

Evaluation of the quality of clinical data collection for a..:

on behalf of the Canadian Inherited Metabolic Diseases Research Network ; Tingley, Kylie ; Lamoureux, Monica...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

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

4

Loss of UGP2 in brain leads to a severe epileptic encephalo..:

Perenthaler, Elena ; Nikoncuk, Anita ; Yousefi, Soheil...
Acta Neuropathologica. 139 (2019) 3 - p. 415-442 , 2019

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

5

Expanding the Phenotype: Neurodevelopmental Disorder, Mitoc..:

Tarnopolsky, Mark ; Kozenko, Mariya ; Jones, Kevin
Journal of Child Neurology. 35 (2019) 2 - p. 176-177 , 2019

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

6

Expanding the Phenotype: Neurodevelopmental Disorder, Mitoc..:

Virdee, Manveen ; Swarnalingam, Eroshini ; Kozenko, Mariya..
Journal of Child Neurology. 34 (2019) 12 - p. 778-781 , 2019

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

7

De novo mutations in the GTP/GDP-binding region of RALA, a ..:

Hiatt, Susan M. ; Neu, Matthew B. ; Ramaker, Ryne C....
PLOS Genetics. 14 (2018) 11 - p. e1007671 , 2018

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

8

Lethal Neonatal Rigidity and Multifocal Seizure Syndrome—A ..:

Hanes, Ilana ; Kozenko, Mariya ; Callen, David J.A.
Pediatric Neurology. 53 (2015) 6 - p. 535-540 , 2015

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

9

Phenotype Presentation for a Novel Mutation Affecting a Con..:

Stevic, Ivan ; Kozenko, Mariya ; LoStracco, Robert..
Biochemical Genetics. 52 (2014) 5-6 - p. 225-232 , 2014

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

10

Potential teratogenic effects of allopurinol: A case report:

Kozenko, Mariya ; Grynspan, David ; Oluyomi‐Obi, Titi...
American Journal of Medical Genetics Part A. 155 (2011) 9 - p. 2247-2252 , 2011

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

11

Heterozygous variants in MYH10 associated with neurodevelop..:

Holtz, Alexander ; VanCoillie, Rachel ; Vansickle, Elizabeth...
qt0fq226c4. , 2022

Link: https://escholarship.org..

12

Heterozygous variants in MYH10 associated with neurodevelop..:

Holtz, Alexander M ; Vancoil, Rachel ; Vansickle, Elizabeth A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10765599/. , 2022

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

13

Evaluation of DNA Methylation Episignatures for Diagnosis a..:

Aref-Eshghi, Erfan ; Kerkhof, Jennifer ; Pedro, Victor P...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8206389/. , 2021

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

14

Evaluation of the quality of clinical data collection for a..:

Tingley, Kylie ; Lamoureux, Monica ; Pugliese, Michael...
https://ir.lib.uwo.ca/paedpub/455. , 2020

Link: https://ir.lib.uwo.ca/pa..

15

A recurrent de novo HSPD1 variant is associated with hypomy..:

Cömert, Cagla ; Brick, Lauren ; Ang, Debbie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304351/. , 2020

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