E-LIB Suche - Ergebnisse für: Sims, Katherine B.

1

Identification of Fabry Disease in a Tertiary Referral Coho..:

Maron, Martin S. ; Xin, Winnie ; Sims, Katherine B....
The American Journal of Medicine. 131 (2018) 2 - p. 200.e1-200.e8 , 2018

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

2

Proteomic Analysis of Brain and Cerebrospinal Fluid from th..:

Sleat, David E. ; Tannous, Abla ; Sohar, Istvan...
Journal of Proteome Research. 16 (2017) 10 - p. 3787-3804 , 2017

Link: https://doi.org/10.1021/..

3

Determinants of white matter hyperintensity burden in patie..:

Rost, Natalia S. ; Cloonan, Lisa ; Kanakis, Allison S....
Neurology. 86 (2016) 20 - p. 1880-1886 , 2016

Link: https://doi.org/10.1212/..

4

Diagnosis and misdiagnosis of adult neuronal ceroid lipofus..:

Berkovic, Samuel F. ; Staropoli, John F. ; Carpenter, Stirling...
Neurology. 87 (2016) 6 - p. 579-584 , 2016

Link: https://doi.org/10.1212/..

5

Panel-based genetic diagnostic testing for inherited eye di..:

Consugar, Mark B. ; Navarro-Gomez, Daniel ; Place, Emily M....
Genetics in Medicine. 17 (2015) 4 - p. 253-261 , 2015

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

6

Exome sequencing in amyotrophic lateral sclerosis identifie..:

Cirulli, Elizabeth T. ; Lasseigne, Brittany N. ; Petrovski, Slavé...
Science. 347 (2015) 6229 - p. 1436-1441 , 2015

Link: http://www.jstor.org/sta..

7

Expanding the clinical spectrum of the lysosomal disorders ..:

Karaa, Amel ; Simas, Alexendra M. ; John, Staropoli...
Molecular Genetics and Metabolism. 114 (2015) 2 - p. S60 , 2015

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

8

Activation of Peroxisome Proliferator-activated Receptor α ..:

Ghosh, Arunava ; Jana, Malabendu ; Modi, Khushbu...
Journal of Biological Chemistry. 290 (2015) 16 - p. 10309-10324 , 2015

Link: https://doi.org/10.1074/..

9

TPP1 deficiency: Rare cause of isolated childhood-onset pro..:

Dy, Marisela E. ; Sims, Katherine B. ; Friedman, Jennifer
Neurology. 85 (2015) 14 - p. 1259-1261 , 2015

Link: https://doi.org/10.1212/..

10

Powering the Immune System: Mitochondria in Immune Function..:

Walker, Melissa A. ; Volpi, Stefano ; Sims, Katherine B...
Journal of Immunology Research. 2014 (2014) - p. 1-8 , 2014

Link: https://doi.org/10.1155/..

11

An unremarkable clinical presentation of lysosomal acid lip..:

Erbe, Richard W. ; Sims, Katherine B. ; Goss, Kendrick A..
Molecular Genetics and Metabolism. 111 (2014) 2 - p. S42 , 2014

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

12

Next generation sequencing with copy number variant detecti..:

Lieber, Daniel S ; Hershman, Steven G ; Slate, Nancy G...
BMC Medical Genetics. 15 (2014) 1 - p. , 2014

Link: https://doi.org/10.1186/..

13

Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Ad..:

Cotman, Susan L. ; Karaa, Amel ; Staropoli, John F..
Current Neurology and Neuroscience Reports. 13 (2013) 8 - p. , 2013

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

14

White matter hyperintensity volume assessment in patients w..:

Rost, Natalia ; Metterville, Danielle R. ; Cloonan, Lisa K....
Molecular Genetics and Metabolism. 108 (2013) 2 - p. S80 , 2013

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

15

Targeted exome sequencing of suspected mitochondrial disord..:

Lieber, Daniel S. ; Calvo, Sarah E. ; Shanahan, Kristy...
Neurology. 80 (2013) 19 - p. 1762-1770 , 2013

Link: https://doi.org/10.1212/..