E-LIB Suche - Ergebnisse für: Kahler, Stephen G.

1

Obituary for Charles Rider Roe, MD:

Kahler, Stephen G. ; Vockley, Jerry
Journal of Inherited Metabolic Disease. 45 (2022) 2 - p. 379-379 , 2022

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

2

Level of residual enzyme activity modulates the phenotype i..:

Vissing, John ; Akman, H. Orhan ; Aasly, Jan...
Neurology. 91 (2018) 11 - p. , 2018

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

3

Butyrate enhances mitochondrial function during oxidative s..:

Rose, Shannon ; Bennuri, Sirish C. ; Davis, Jakeira E....
Translational Psychiatry. 8 (2018) 1 - p. , 2018

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

4

Intravenous immunoglobulin for the treatment of autoimmune ..:

Connery, Kathleen ; Tippett, Marie ; Delhey, Leanna M....
Translational Psychiatry. 8 (2018) 1 - p. , 2018

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

5

Clinical and Molecular Characteristics of Mitochondrial Dys..:

Rose, Shannon ; Niyazov, Dmitriy M. ; Rossignol, Daniel A....
Molecular Diagnosis & Therapy. 22 (2018) 5 - p. 571-593 , 2018

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

6

LINE- andAlu-containing genomic instability hotspot at 16q2..:

Szafranski, Przemyslaw ; Kośmider, Ewelina ; Liu, Qian...
Human Mutation. 39 (2018) 12 - p. 1916-1925 , 2018

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

7

The role of IQSEC2 in syndromic intellectual disability: Na..:

Helm, Benjamin M. ; Powis, Zoe ; Prada, Carlos E....
American Journal of Medical Genetics Part A. 173 (2017) 10 - p. 2814-2820 , 2017

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

8

Blocking and Binding Folate Receptor Alpha Autoantibodies I..:

Frye, Richard E. ; Delhey, Leanna ; Slattery, John...
Frontiers in Neuroscience. 10 (2016) - p. , 2016

Link: https://doi.org/10.3389/..

9

ZC4H2, an XLID gene, is required for the generation of a sp..:

May, Melanie ; Hwang, Kyu-Seok ; Miles, Judith...
Human Molecular Genetics. 24 (2015) 17 - p. 4848-4861 , 2015

Link: https://doi.org/10.1093/..

10

Practice patterns of mitochondrial disease physicians in No..:

Parikh, Sumit ; Goldstein, Amy ; Koenig, Mary Kay...
Mitochondrion. 14 (2014) - p. 26-33 , 2014

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

11

Practice patterns of mitochondrial disease physicians in No..:

Parikh, Sumit ; Goldstein, Amy ; Koenig, Mary Kay...
Mitochondrion. 13 (2013) 6 - p. 681-687 , 2013

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

12

Characterization of six novel patients with MECP2 duplicati..:

Sanmann, Jennifer N. ; Bishay, Danielle L. ; Starr, Lois J....
American Journal of Medical Genetics Part A. 158A (2012) 6 - p. 1285-1291 , 2012

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

13

Metabolic Imbalance Associated with Methylation Dysregulati..:

Melnyk, Stepan ; Fuchs, George J. ; Schulz, Eldon...
Journal of Autism and Developmental Disorders. 42 (2011) 3 - p. 367-377 , 2011

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

14

Native American myopathy: Congenital myopathy with cleft pa..:

Stamm, Demetra S. ; Aylsworth, Arthur S. ; Stajich, Jeffrey M....
American Journal of Medical Genetics Part A. 146A (2008) 14 - p. 1832-1841 , 2008

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

15

A novel MGP mutation in a consanguineous family: Review of ..:

Hur, David J. ; Raymond, Gerald V. ; Kahler, Stephen G....
American Journal of Medical Genetics Part A. 135A (2005) 1 - p. 36-40 , 2005

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