E-LIB Suche - Ergebnisse für: Kuntal Sen

1

P024: Role of muscle biopsy and exome re-analysis in a myst..:

Pickup, Elizabeth ; Sen, Kuntal ; Moore, Steven...
Genetics in Medicine Open. 2 (2024) - p. 100901 , 2024

Link: https://doi.org/10.1016/..

2

P567: Innovations in education: Empowering child neurology ..:

Sen, Kuntal ; Ananth, Amitha ; Gottlieb-Smith, Rachel...
Genetics in Medicine Open. 2 (2024) - p. 101466 , 2024

Link: https://doi.org/10.1016/..

3

Are asymptomatic carriers of OTC always asymptomatic? A mul..:

Sen, Kuntal ; Izem, Rima ; Long, Yuelin...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108309 , 2024

Link: https://doi.org/10.1016/..

4

Trofinetide approved for children and adults with Rett synd..:

Selvam, Pavalan ; Mares Beltrán, Carlos F. ; Sen, Kuntal.
Genetics in Medicine Open. 2 (2024) - p. 101856 , 2024

Link: https://doi.org/10.1016/..

5

Targeted Needs Assessment for a National Neurogenetics Curr..:

Gottlieb-Smith, Rachel ; Sen, Kuntal ; Dang, Louis T..
Pediatric Neurology. 152 (2024) - p. 62 , 2024

Link: https://doi.org/10.1016/..

6

Expedited Exome Reanalysis Following Deep Phenotyping and M..:

Pickup, Elizabeth ; Moore, Steven A. ; Suwannarat, Pim...
Pediatric Neurology. 156 (2024) - p. 178-181 , 2024

Link: https://doi.org/10.1016/..

7

COL4A1‐related disorder as a mimic of congenital TORCHES in..:

Kukulka, Natalie A. ; Zarei, Sanam ; Glass, Joshua...
American Journal of Medical Genetics Part A. , 2024

Link: https://doi.org/10.1002/..

8

N-of-1 use of Moberg CNS Monitor in an inborn error of meta..:

Gropman, Andrea ; Khaksari, Kosar ; Sen, Kuntal...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108222 , 2024

Link: https://doi.org/10.1016/..

9

Are asymptomatic carriers of OTC deficiency always asymptom..:

Sen, Kuntal ; Izem, Rima ; Long, Yuelin...
Molecular Genetics & Genomic Medicine. 12 (2024) 4 - p. , 2024

Link: https://doi.org/10.1002/..

10

When Zebras Collide: Differentiating Rare Causes of Recurre..:

Genser, Ilyse ; Sen, Kuntal ; Sherman, Matthew A....
Pediatric Neurology. 142 (2023) - p. 58-59 , 2023

Link: https://doi.org/10.1016/..

11

Omaveloxolone approved for patients aged 16 years and older..:

Lenahan, Arthur ; Yano, Sho ; Graham, Brett.
Genetics in Medicine Open. 1 (2023) 1 - p. 100832 , 2023

Link: https://doi.org/10.1016/..

12

ACUTE DECOMPENSATIONS IN SMALL MOLECULE AND ENERGY DEFICIEN..:

Sen, Kuntal ; Pariseau, Nicole ; Zhang, Anqing..
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107482 , 2023

Link: https://doi.org/10.1016/..

13

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/..

14

P300: Importance of neuromonitoring during acute crises in ..:

Sen, Kuntal ; Pariseau, Nicole ; Zhang, Anqing..
Genetics in Medicine Open. 1 (2023) 1 - p. 100328 , 2023

Link: https://doi.org/10.1016/..

15

Limitations of Multigene Next-Generation Sequencing Panel f..:

Eskandar, Marina ; Tochen, Laura ; Shin, Mi Ran...
Pediatric Neurology. 149 (2023) - p. 15-18 , 2023

Link: https://doi.org/10.1016/..