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Burrage, Lindsay C.
329
results:
Search for persons
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Online (329)
Mediatypes
Articles (Online) (204)
Bookchapter (Online) (4)
OpenAccess-fulltext (121)
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1
Impact of supplementation with L-citrulline/arginine after ..:
Posset, Roland
;
Garbade, Sven F.
;
Gleich, Florian
...
Molecular Genetics and Metabolism. 141 (2024) 3 - p. 108112 , 2024
Link:
https://doi.org/10.1016/..
?
2
Severity-adjusted evaluation of liver transplantation on he..:
Posset, Roland
;
Garbade, Sven F.
;
Gleich, Florian
...
Genetics in Medicine. 26 (2024) 4 - p. 101039 , 2024
Link:
https://doi.org/10.1016/..
?
3
Heterozygous MAP3K20 variants cause ectodermal dysplasia, c..:
Brooks, Daniel
;
Burke, Elizabeth
;
Lee, Sukyeong
...
Human Genetics. 143 (2024) 3 - p. 279-291 , 2024
Link:
https://doi.org/10.1007/..
?
4
Loss of the endoplasmic reticulum protein Tmem208 affects c..:
Dutta, Debdeep
;
Kanca, Oguz
;
Shridharan, Rishi V.
...
Proceedings of the National Academy of Sciences. 121 (2024) 9 - p. , 2024
Link:
https://doi.org/10.1073/..
?
5
De novo variants in the RNU4-2 snRNA cause a frequent neuro..:
Chen, Yuyang
;
Dawes, Ruebena
;
Kim, Hyung Chul
...
Nature. , 2024
Link:
https://doi.org/10.1038/..
?
6
Dominant missense variants in SREBF2 are associated with co..:
Moulton, Matthew J.
;
Atala, Kristhen
;
Zheng, Yiming
...
Genetics in Medicine. 26 (2024) 9 - p. 101174 , 2024
Link:
https://doi.org/10.1016/..
?
7
De novo variants in FRYL are associated with developmental ..:
Pan, Xueyang
;
Tao, Alice M.
;
Lu, Shenzhao
...
The American Journal of Human Genetics. 111 (2024) 4 - p. 742-760 , 2024
Link:
https://doi.org/10.1016/..
?
8
The clinical utility and diagnostic implementation of human..:
Li, Shenglan
;
Zhao, Sen
;
Sinson, Jefferson C.
...
The American Journal of Human Genetics. 111 (2024) 5 - p. 841-862 , 2024
Link:
https://doi.org/10.1016/..
?
9
Solid organ transplantation in methylmalonic acidemia and p..:
Sen, Kuntal
;
Burrage, Lindsay C.
;
Chapman, Kimberly A.
...
Genetics in Medicine. 25 (2023) 2 - p. 100337 , 2023
Link:
https://doi.org/10.1016/..
?
10
Gain-of-function and loss-of-function variants in GRIA3 lea..:
Rinaldi, Berardo
;
Bayat, Allan
;
Zachariassen, Linda G
...
Brain. 147 (2023) 5 - p. 1837-1855 , 2023
Link:
https://doi.org/10.1093/..
?
11
Delayed skeletal development and IGF-1 deficiency in a mous..:
Stroup, Bridget M.
;
Li, Xiaohui
;
Ho, Sara
...
Disease Models & Mechanisms. 16 (2023) 8 - p. , 2023
Link:
https://doi.org/10.1242/..
?
12
SPTSSA variants alter sphingolipid synthesis and cause a co..:
Srivastava, Siddharth
;
Shaked, Hagar Mor
;
Gable, Kenneth
...
Brain. 146 (2023) 4 - p. 1420-1435 , 2023
Link:
https://doi.org/10.1093/..
?
13
De novo missense variants in ZBTB47 are associated with dev..:
Ward, Scott K.
;
Wadley, Alexandrea
;
Tsai, Chun‐hui (Anne)
...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 17-30 , 2023
Link:
https://doi.org/10.1002/..
?
14
Monitoring the treatment of urea cycle disorders using phen..:
Glinton, Kevin E.
;
Minard, Charles G.
;
Liu, Ning
...
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107699 , 2023
Link:
https://doi.org/10.1016/..
?
15
TMEM161B regulates cerebral cortical gyration, Sonic Hedgeh..:
Akula, Shyam K.
;
Marciano, Jack H.
;
Lim, Youngshin
...
Proceedings of the National Academy of Sciences. 120 (2023) 4 - p. , 2023
Link:
https://doi.org/10.1073/..
1-15