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Summar, Marshall L.
185  results:
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1

Increasing Diversity, Equity, Inclusion, and Accessibility ..:

Baynam, Gareth ; Baker, Simeón ; Steward, Charles...
Pharmaceutical Medicine.  38 (2024)  4 - p. 261-276 , 2024
Link: https://doi.org/10.1007/..
 
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2

Enhancing Equitable Access to Rare Disease Diagnosis and Tr..:

Adachi, Takeya ; El-Hattab, Ayman W. ; Jain, Ritu...
International Journal of Environmental Research and Public Health.  20 (2023)  6 - p. 4732 , 2023
Link: https://doi.org/10.3390/..
 
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3

The past, present, and future of child growth monitoring: A..:

Shur, Natasha ; Tigranyan, Annie ; Daymont, Carrie...
American Journal of Medical Genetics Part A.  191 (2023)  4 - p. 948-961 , 2023
Link: https://doi.org/10.1002/..
 
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4

RECAPITULATION OF METABOLIC DEFECTS IN MODELS OF THE UREA C..:

Collado, M. Sol ; Fogarty, Jeanine ; Pryor, Andrew...
Molecular Genetics and Metabolism.  135 (2022)  4 - p. 266 , 2022
Link: https://doi.org/10.1016/..
 
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5

Association of citrulline concentration at birth with lower..:

Snyder, Brittney M. ; Gebretsadik, Tebeb ; Turi, Kedir N....
Frontiers in Pediatrics.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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6

The Rare Disease Research Scholars Program: A training curr..:

Regier, Debra S. ; Weaver, Jennifer A. ; Cheng, Nancy...
Translational Science of Rare Diseases.  6 (2022)  1-2 - p. 1-11 , 2022
Link: https://doi.org/10.3233/..
 
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7

Amino acid signature during sickle cell pain crisis shows s..:

Zhou, Yun ; Yu, Xue ; Nicely, Ava...
Molecular Genetics and Metabolism.  137 (2022)  1-2 - p. 146-152 , 2022
Link: https://doi.org/10.1016/..
 
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8

A machine learning-based screening tool for genetic syndrom..:

Porras, Antonio R ; Rosenbaum, Kenneth ; Tor-Diez, Carlos..
The Lancet Digital Health.  4 (2022)  5 - p. e296 , 2022
Link: https://doi.org/10.1016/..
 
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9

ACYL-COA DEHYDROGENASES (ACAD) SUBSTRATE PROMISCUITY EXPLAI..:

Collado, M. Sol ; Armstrong, Allison ; Figler, Robert...
Molecular Genetics and Metabolism.  135 (2022)  4 - p. 266 , 2022
Link: https://doi.org/10.1016/..
 
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10

Folic acid, either solely or combined with L‐citrulline, im..:

Douglass, Matthew ; Dikalova, Anna ; Kaplowitz, Mark R....
Physiological Reports.  9 (2021)  21 - p. , 2021
Link: https://doi.org/10.14814..
 
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11

HST5040: An investigational oral small molecule therapy ent..:

Cox, Gerald ; Armstrong, Allison ; Waller, Mavis...
Molecular Genetics and Metabolism.  132 (2021)  - p. S162 , 2021
Link: https://doi.org/10.1016/..
 
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12

Development and evaluation of a machine learning-based poin..:

Porras, Antonio R ; Rosenbaum, Kenneth ; Tor-Diez, Carlos..
The Lancet Digital Health.  3 (2021)  10 - p. e635-e643 , 2021
Link: https://doi.org/10.1016/..
 
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13

Rapid deployment of a telemedicine care model for genetics ..:

Shur, Natasha ; Atabaki, Shireen M. ; Kisling, Monisha S....
American Journal of Medical Genetics Part A.  185 (2020)  1 - p. 68-72 , 2020
Link: https://doi.org/10.1002/..
 
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14

Biochemical and anaplerotic applications of in vitro models..:

Collado, M. Sol ; Armstrong, Allison J. ; Olson, Matthew...
Molecular Genetics and Metabolism.  130 (2020)  3 - p. 183-196 , 2020
Link: https://doi.org/10.1016/..
 
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15

Invited commentary: His life was lost but his heart still b..:

Shur, Natasha ; Hinds, Tanya ; Shalaby‐Rana, Eglal...
American Journal of Medical Genetics Part A.  179 (2019)  12 - p. 2329-2332 , 2019
Link: https://doi.org/10.1002/..
 
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