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Cork, Emalyn
14
results:
Search for persons
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Format
Online (14)
Mediatypes
Articles (Online) (8)
OpenAccess-fulltext (6)
Sorted by: Relevance
Sorted by: Year
?
1
Shwachman–Diamond syndrome mimicking mitochondrial hepatopa..:
Kaufman, Odelya
;
Donnelly, Colleen
;
Cork, Emalyn
...
JPGN Reports. 5 (2024) 2 - p. 213-217 , 2024
Link:
https://doi.org/10.1002/..
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2
P010: The impact of very long-chain Acyl-CoA dehydrogenase ..:
Crawford, Sarah
;
Fresneda, Juanita Neira
;
Sablon, Elizabeth
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100020 , 2023
Link:
https://doi.org/10.1016/..
?
3
A novel deleterious ETFA promoter variant causative of mult..:
Prasun, Pankaj
;
Evans, Anthony
;
Cork, Emalyn
..
American Journal of Medical Genetics Part A. 191 (2022) 4 - p. 1089-1093 , 2022
Link:
https://doi.org/10.1002/..
?
4
eP011: Diagnosis of DNAJC12-deficient hyperphenylalaninemia..:
Donnelly, Colleen
;
Ganesh, Jaya
;
Cork, Emalyn
...
Genetics in Medicine. 24 (2022) 3 - p. S6-S7 , 2022
Link:
https://doi.org/10.1016/..
?
5
Broad spectrum of clinical presentation in EARS2 beyond typ..:
Prasun, Pankaj
;
Mintz, Cassie
;
Cork, Emalyn
..
Journal of the Neurological Sciences. 406 (2019) - p. 116448 , 2019
Link:
https://doi.org/10.1016/..
?
6
Evaluating the association of biallelic OGDHL variants with..:
Lin, Sheng-Jia
;
Vona, Barbara
;
Lau, Tracy
...
Genome Medicine. 15 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
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7
A novel missense variant in RBM10 can cause a mild form of ..:
Imagawa, Eri
;
Konuma, Tsuyoshi
;
Cork, Emalyn E.
..
Clinical Genetics. 98 (2020) 6 - p. 606-612 , 2020
Link:
https://doi.org/10.1111/..
?
8
Novel missense variants in PCK1 gene cause cytosolic PEPCK ..:
Oishi, Kimihiko
;
Siegel, Casey
;
Cork, Emalyn E.
..
Journal of Human Genetics. 66 (2020) 3 - p. 321-325 , 2020
Link:
https://doi.org/10.1038/..
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9
Broad spectrum of clinical presentation in EARS2 beyond typ..:
Prasun, Pankaj
;
Mintz, Cassie
;
Cork, Emalyn
..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7373422/. , 2019
Link:
http://www.ncbi.nlm.nih...
?
10
Evaluating the association of biallelic OGDHL variants with..:
Lin, Sheng-Jia
;
Vona, Barbara
;
Lau, Tracy
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10688095/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
11
Evaluating the association of biallelic OGDHL variants with..:
Lin, Sheng-Jia
;
Vona, Barbara
;
Lau, Tracy
...
https://discovery.ucl.ac.uk/id/eprint/10183213/1/s13073-023-01258-4.pdf. , 2023
Link:
https://discovery.ucl.ac..
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12
P010: The impact of very long-chain Acyl-CoA dehydrogenase ..:
Sarah Crawford
;
Juanita Neira Fresneda
;
Elizabeth Sablon
...
http://www.sciencedirect.com/science/article/pii/S2949774423000201. , 2023
Link:
https://doi.org/10.1016/..
?
13
Additional file 1 of Evaluating the association of bialleli..:
Sheng-Jia Lin
;
Barbara Vona
;
Tracy Lau
...
doi:10.6084/m9.figshare.24670002.v1. , 2023
Link:
https://doi.org/10.6084/..
?
14
Evaluating the association of biallelic OGDHL variants with..:
Sheng-Jia Lin
;
Barbara Vona
;
Tracy Lau
...
https://doi.org/10.1186/s13073-023-01258-4. , 2023
Link:
https://doi.org/10.1186/..
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