E-LIB Suche - Ergebnisse für: Dwight, Selina S

1

NGLY1 deficiency: a prospective natural history study:

Tong, Sandra ; Ventola, Pamela ; Frater, Christina H...
Human Molecular Genetics. 32 (2023) 18 - p. 2787-2796 , 2023

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

2

NGLY1 deficiency: estimated incidence, clinical features, a..:

Stanclift, Caroline R. ; Dwight, Selina S. ; Lee, Kevin...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

3

ClinGen Variant Curation Interface: a variant classificatio..:

Preston, Christine G. ; Wright, Matt W. ; Madhavrao, Rao...
Genome Medicine. 14 (2022) 1 - p. , 2022

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

4

AAV9-NGLY1 gene replacement therapy improves phenotypic and..:

Zhu, Lei ; Tan, Brandon ; Dwight, Selina S....
Molecular Therapy - Methods & Clinical Development. 27 (2022) - p. 259-271 , 2022

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

5

Unique aspects of sequence variant interpretation for inbor..:

Zastrow, Diane B. ; Baudet, Heather ; Shen, Wei...
Human Mutation. 39 (2018) 11 - p. 1569-1580 , 2018

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

6

Cover Image, Volume 39, Issue 11:

Zastrow, Diane B. ; Baudet, Heather ; Shen, Wei...
Human Mutation. 39 (2018) 11 - p. , 2018

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

7

The complex portal - an encyclopaedia of macromolecular com..:

Meldal, Birgit H.M. ; Forner-Martinez, Oscar ; Costanzo, Maria C....
Nucleic Acids Research. 43 (2014) D1 - p. D479-D484 , 2014

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

8

Predicting Gene Function From Patterns of Annotation:

King, Oliver D. ; Foulger, Rebecca E. ; Dwight, Selina S...
Genome Research. 13 (2003) 5 - p. 896-904 , 2003

Link: https://doi.org/10.1101/..

9

Gene Ontology: tool for the unification of biology:

Ashburner, Michael ; Ball, Catherine A. ; Blake, Judith A....
Nature Genetics. 25 (2000) 1 - p. 25-29 , 2000

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

10

Expanding yeast knowledge online:

Dolinski, Kara ; Ball, Catherine A. ; Chervitz, Stephen A....
Yeast. 14 (1998) 16 - p. 1453-1469 , 1998

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

11

Comparison of the Complete Protein Sets of Worm and Yeast: ..:

Chervitz, Stephen A. ; Aravind, L. ; Sherlock, Gavin...
Science. 282 (1998) 5396 - p. 2022-2028 , 1998

Link: https://doi.org/10.1126/..

12

Comparison of the Complete Protein Sets of Worm and Yeast: ..:

Chervitz, Stephen A. ; Aravind, L. ; Sherlock, Gavin...
Science. 282 (1998) 5396 - p. 2022-2028 , 1998

Link: https://www.jstor.org/st..

13

AAV9-NGLY1 gene replacement therapy improves phenotypic and..:

Zhu, Lei ; Tan, Brandon ; Dwight, Selina S...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9593239/. , 2022

Link: http://www.ncbi.nlm.nih...

14

ClinGen Variant Curation Interface: a variant classificatio..:

Preston, Christine G ; Wright, Matt W ; Madhavrao, Rao...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8764818/. , 2022

Link: http://www.ncbi.nlm.nih...

15

NGLY1 deficiency: estimated incidence, clinical features, a..:

Stanclift, Caroline R ; Dwight, Selina S ; Lee, Kevin...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9759919/. , 2022

Link: http://www.ncbi.nlm.nih...