E-LIB Suche - Ergebnisse für: Fraser, Jamie L.

1

P790: Yield of exome sequencing in congenital brain malform..:

Fortin, Olivier ; Lawrence, Anne ; Cilli, Kate...
Genetics in Medicine Open. 2 (2024) - p. 101698 , 2024

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

2

Movement disorders in leukodystrophies:

Tochen, Laura ; Rhee, Jullie ; Harmon, Jennifer.
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108268 , 2024

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

3

P184: Hypermobility clinic: Innovative workflow supporting ..:

Chapman, Kimberly ; Vause, Spencer ; Berger, Seth...
Genetics in Medicine Open. 2 (2024) - p. 101081 , 2024

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

4

P356: Overlapping movement disorder phenotypes are a hallma..:

Tochen, Laura ; Harmon, Jennifer ; Schroeder, Jason.
Genetics in Medicine Open. 2 (2024) - p. 101250 , 2024

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

5

Characteristic fetal brain MRI abnormalities in pyruvate de..:

Fortin, Olivier ; Christoffel, Kelsey ; Schroeder, Jason...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108219 , 2024

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

6

Blood-brain barrier dysfunction in leukoencephalopathy, bra..:

Nwankwo, Nnenna ; Pierce, Brianna ; Smith, Natalie.
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108194 , 2024

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

7

P798: Prenatal diagnosis of GATA6-related disorder in a mat..:

Ho, Wendy ; Fortin, Olivier ; Fraser, Jamie
Genetics in Medicine Open. 2 (2024) - p. 101706 , 2024

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

8

Death associated with brain herniation in classical MSUD pa..:

Leon, Eyby ; Shur, Natasha ; Chapman, Kimberly...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108297 , 2024

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

9

P789: Novel markers of pyruvate dehydrogenase complex defic..:

Lawrence, Anne ; Fortin, Olivier ; Christoffel, Kelsey...
Genetics in Medicine Open. 2 (2024) - p. 101697 , 2024

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

10

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/..

11

P778: Congenital brain malformations in TPK1-related disord..:

Cilli, Kate ; Harmon, Jennifer ; Fortin, Olivier..
Genetics in Medicine Open. 2 (2024) - p. 101686 , 2024

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

12

Developmental delay can precede neurologic regression in ea..:

Adang, Laura Ann ; Groeschel, Samuel ; Grzyb, Chloe...
Molecular Genetics and Metabolism. 142 (2024) 4 - p. 108521 , 2024

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

13

Using MRI derived observed to expected total lung volume to..:

Bulas, Dorothy I. ; Fraser, Jamie L. ; Cilli, Kate
Pediatric Radiology. 54 (2024) 5 - p. 854-856 , 2024

Link: https://doi.org/10.1007/..

14

Enasidenib‐induced hepatitis in an individual with Type II ..:

Gold, Jessica I. ; Stefanatos, Arianna K. ; Fraser, Jamie L...
JIMD Reports. 65 (2024) 3 - p. 156-162 , 2024

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

15

Advancing fetal diagnosis and prognostication using compreh..:

Fortin, Olivier ; Mulkey, Sarah B. ; Fraser, Jamie L.
Pediatric Research. , 2024

Link: https://doi.org/10.1038/..