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Shchelochkov, Oleg A.
86
results:
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Online (86)
Mediatypes
Articles (Online) (52)
OpenAccess-fulltext (34)
Sorted by: Relevance
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?
1
Intellectual disability and autism in propionic acidemia: a..:
Shchelochkov, Oleg A.
;
Farmer, Cristan A.
;
Chlebowski, Colby
...
Molecular Psychiatry. 29 (2024) 4 - p. 974-981 , 2024
Link:
https://doi.org/10.1038/..
?
2
P006: Evaluation and application of a genetic risk score fo..:
Chaillet, Katharine
;
Haines, Shannon
;
Keaton, Jacob
...
Genetics in Medicine Open. 2 (2024) - p. 100883 , 2024
Link:
https://doi.org/10.1016/..
?
3
P058: Design of the prospective study of the clinical, labo..:
Haines, Shannon
;
Chaillet, Katharine
;
Shchelochkov, Oleg
Genetics in Medicine Open. 2 (2024) - p. 100935 , 2024
Link:
https://doi.org/10.1016/..
?
4
Prospective evaluation of the clinical, laboratory, and die..:
Shchelochkov, Oleg
;
Chaillet, Kate
;
Haines, Shannon
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108257 , 2024
Link:
https://doi.org/10.1016/..
?
5
Probing the functional consequence and clinical relevance o..:
Pangilinan, Faith
;
Watkins, David
;
Bernard, David
...
American Journal of Medical Genetics Part A. 188 (2022) 4 - p. 1124-1141 , 2022
Link:
https://doi.org/10.1002/..
?
6
COBALAMIN TREATMENT STRATEGIES IN VITAMIN B12-RESPONSIVE CO..:
Peretz, Ryan
;
McCoy, Samantha
;
Sloan, Jennifer
...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 291 , 2022
Link:
https://doi.org/10.1016/..
?
7
GYNECOLOGIC ISSUES IN METHYLMALONIC ACIDEMIA (MMA), COBALAM..:
Merideth, Melissa A.
;
Sloan, Jennifer
;
Van Ryzin, Carol
...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 287 , 2022
Link:
https://doi.org/10.1016/..
?
8
Case report of a pseudo‐isodicentric chromosome 9 resulting..:
Beaudry, Sarah M.
;
Shchelochkov, Oleg
;
Trapane, Pamela
..
Clinical Case Reports. 9 (2021) 4 - p. 2340-2344 , 2021
Link:
https://doi.org/10.1002/..
?
9
Newborn screening and optimized hydroxocobalamin and dietar..:
Manoli, Irini
;
Yano, Sho
;
Sloan, Jennifer
...
Molecular Genetics and Metabolism. 132 (2021) - p. S1-S2 , 2021
Link:
https://doi.org/10.1016/..
?
10
1-13C-propionate breath testing as a surrogate endpoint to ..:
Manoli, Irini
;
Pass, Alexandra R.
;
Harrington, Elizabeth A.
...
Genetics in Medicine. 23 (2021) 8 - p. 1522-1533 , 2021
Link:
https://doi.org/10.1038/..
?
11
Severity modeling of propionic acidemia using clinical and ..:
Shchelochkov, Oleg A.
;
Manoli, Irini
;
Juneau, Paul
...
Genetics in Medicine. 23 (2021) 8 - p. 1534-1542 , 2021
Link:
https://doi.org/10.1038/..
?
12
The natural history of vitamin B12-responsive cobalamin A-t..:
Peretz, Ryan
;
McCoy, Samantha
;
Sloan, Jennifer
...
Molecular Genetics and Metabolism. 132 (2021) - p. S18 , 2021
Link:
https://doi.org/10.1016/..
?
13
Correction to: 1-13C-propionate breath testing as a surroga..:
Manoli, Irini
;
Pass, Alexandra R.
;
Harrington, Elizabeth A.
...
Genetics in Medicine. 23 (2021) 11 - p. 2233 , 2021
Link:
https://doi.org/10.1038/..
?
14
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) ..:
Beck, Tyler F
;
Veenma, Danielle
;
Shchelochkov, Oleg A
...
Human Molecular Genetics. 29 (2020) 6 - p. 1054-1054 , 2020
Link:
https://doi.org/10.1093/..
?
15
Chronic kidney disease in propionic acidemia:
Shchelochkov, Oleg A.
;
Manoli, Irini
;
Sloan, Jennifer L.
...
Genetics in Medicine. 21 (2019) 12 - p. 2830-2835 , 2019
Link:
https://doi.org/10.1038/..
1-15