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Burrage, Lindsay C.
329  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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