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Kaur, Shagun
83
results:
Search for persons
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Online (83)
Mediatypes
Articles (Online) (43)
Bookchapter (Online) (16)
OpenAccess-fulltext (24)
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1
Clinical utility of polygenic risk scores for embryo select..:
Grebe, Theresa A.
;
Khushf, George
;
Greally, John M.
...
Genetics in Medicine. 26 (2024) 4 - p. 101052 , 2024
Link:
https://doi.org/10.1016/..
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2
Response to Widen et al:
Grebe, Theresa A.
;
Khushf, George
;
Greally, John M.
...
Genetics in Medicine. , 2024
Link:
https://doi.org/10.1016/..
?
3
ARGININOSUCCINIC ACID IS EXQUISITELY SENSITIVE AND SPECIFIC..:
Ellenberg, Elisheva
;
Kaur, Shagun
;
Pappas, Kara
...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107411 , 2023
Link:
https://doi.org/10.1016/..
?
4
Clinical, technical, and environmental biases influencing e..:
Matalon, Dena R.
;
Zepeda-Mendoza, Cinthya J.
;
Aarabi, Mahmoud
...
Genetics in Medicine. 25 (2023) 6 - p. 100812 , 2023
Link:
https://doi.org/10.1016/..
?
5
2-Methylglutaconic acid as a biomarker in routine urine org..:
Wongkittichote, Parith
;
Hong, Xinying
;
Master, Stephen R.
...
Molecular Genetics and Metabolism. 138 (2023) 4 - p. 107549 , 2023
Link:
https://doi.org/10.1016/..
?
6
Characterizing asparagine synthetase deficiency variants in..:
Staklinski, Stephen J.
;
Chang, Mario C.
;
Ahrens‐Nicklas, Rebecca C.
...
JIMD Reports. 64 (2023) 2 - p. 167-179 , 2023
Link:
https://doi.org/10.1002/..
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7
eP020: Expanding the clinical spectrum of asparagine synthe..:
Kaur, Shagun
;
Adams, Darius
;
Fitzgerald, Mark
...
Genetics in Medicine. 24 (2022) 3 - p. S14 , 2022
Link:
https://doi.org/10.1016/..
?
8
Biallelic Variants in LAMB1 Causing Hydranencephaly: A Seve..:
Sen, Kuntal
;
Kaur, Shagun
;
Stockton, David W.
..
American Journal of Perinatology Reports. 11 (2021) 1 - p. e26-e28 , 2021
Link:
https://doi.org/10.1055/..
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9
Management of COVID‐19 infection in organic acidemias:
Kaur, Shagun
;
Campbell, Stephanie L.
;
Stockton, David W.
American Journal of Medical Genetics Part A. 185 (2021) 6 - p. 1854-1857 , 2021
Link:
https://doi.org/10.1002/..
?
10
Compound heterozygous variants in GOSR2 associated with con..:
Henige, Hannah
;
Kaur, Shagun
;
Pappas, Kara
European Journal of Medical Genetics. 64 (2021) 4 - p. 104184 , 2021
Link:
https://doi.org/10.1016/..
?
11
Rapid exome and genome sequencing in critically ill pediatr..:
Hicks, Melissa
;
Kaur, Shagun
;
Conway, Robert
..
Molecular Genetics and Metabolism. 132 (2021) - p. S111-S112 , 2021
Link:
https://doi.org/10.1016/..
?
12
Characterizing asparagine synthetase deficiency variants in..:
Staklinski, Stephen J
;
Chang, Mario C
;
Ahrens-Nicklas, Rebecca C
...
https://repository.cshl.edu/id/eprint/41292/1/Characterizing%20asparagine%20synthetase%20deficiency%20variants%20in%20lymphoblastoid%20cell%20lines.pdf. , 2023
Link:
https://repository.cshl...
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13
Characterizing asparagine synthetase deficiency variants in..:
Stephen J. Staklinski
;
Mario C. Chang
;
Rebecca C. Ahrens‐Nicklas
...
https://doi.org/10.1002/jmd2.12356. , 2023
Link:
https://doi.org/10.1002/..
?
14
Biallelic Variants in LAMB1 Causing Hydranencephaly: A Seve..:
Kuntal Sen
;
Shagun Kaur
;
David W. Stockton
..
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0040-1722728. , 2021
Link:
https://doi.org/10.1055/..
?
15
Unraveling the potential of hydrogen sulfide as a signaling..:
Bhadwal, Siloni Singh
;
Verma, Shagun
;
Hassan, Shahnawaz
.
Plant Physiology and Biochemistry. 212 (2024) - p. 108730 , 2024
Link:
https://doi.org/10.1016/..
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