E-LIB Suche - Ergebnisse für: ADAMS, DARIUS

1

Moya moya vasculopathy and MECP2 duplication syndrome:

Holover, Gianna ; Adams, Darius ; Milligan, Dawn...
Child's Nervous System. 40 (2023) 3 - p. 809-812 , 2023

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

2

Phase 2/3 Clinical Trial Results: Safety & Efficacy Results..:

Fay, Alexander ; Adams, Darius ; Atwal, Paldeep...
Neurology. 98 (2022) 18_supplement - p. , 2022

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

3

eP020: Expanding the clinical spectrum of asparagine synthe..:

Kaur, Shagun ; Adams, Darius ; Fitzgerald, Mark...
Genetics in Medicine. 24 (2022) 3 - p. S14 , 2022

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

4

Growth of Managed Older Douglas-fir Stands: Implications of..:

Tappeiner, John ; Adams, Darius ; Montgomery, Claire.
Journal of Forestry. 120 (2021) 3 - p. 282-288 , 2021

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

5

Use of pegvaliase in the management of phenylketonuria: Cas..:

Adams, Darius ; Andersson, Hans C. ; Bausell, Heather...
Molecular Genetics and Metabolism Reports. 28 (2021) - p. 100790 , 2021

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

6

Phenom: a prospective clinical study on the clinical impact..:

Harding, Cary ; Geberhiwot, Tarekegn ; Weng, Haoling...
Molecular Genetics and Metabolism. 132 (2021) - p. S113-S114 , 2021

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

7

The infantile neuroaxonal dystrophy rating scale (INAD-RS):

Atwal, Paldeep S. ; Midei, Mark ; Adams, Darius...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

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

8

Natural history of the oldest known females with mucopolysa..:

Peretz, Ryan H. ; Flora, Christina H. ; Adams, Darius J.
American Journal of Medical Genetics Part A. 182 (2020) 6 - p. 1491-1495 , 2020

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

9

Treatment of infantile neuroaxonal dystrophy with RT001: A ..:

Adams, Darius ; Midei, Mark ; Dastgir, Jahannaz...
JIMD Reports. 54 (2020) 1 - p. 54-60 , 2020

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

10

International best practice for the evaluation of responsiv..:

Muntau, Ania C. ; Adams, Darius J. ; Bélanger-Quintana, Amaya...
Molecular Genetics and Metabolism. 127 (2019) 1 - p. 1-11 , 2019

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

11

Phenotype delineation of ZNF462 related syndrome:

Kruszka, Paul ; Hu, Tommy ; Hong, Sungkook...
American Journal of Medical Genetics Part A. 179 (2019) 10 - p. 2075-2082 , 2019

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

12

Case Report: Expanded Access Treatment of an Infantile Neur..:

Adams, Darius ; Dastgir, Janannaz ; Molinari, Robert.
Neurology. 90 (2018) 15_supplement - p. , 2018

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

13

Newborn screening for Krabbe disease in New York State: the..:

Orsini, Joseph J. ; Kay, Denise M. ; Saavedra-Matiz, Carlos A....
Genetics in Medicine. 18 (2016) 3 - p. 239-248 , 2016

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

14

ATP6AP1 deficiency causes an immunodeficiency with hepatopa..:

Jansen, Eric J. R. ; Timal, Sharita ; Ryan, Margret...
Nature Communications. 7 (2016) 1 - p. , 2016

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

15

Common Genetic and Epigenetic Syndromes:

Adams, Darius J. ; Clark, David A.
Pediatric Clinics of North America. 62 (2015) 2 - p. 411-426 , 2015

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