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Maglott, Donna R
110
results:
Search for persons
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Online (110)
Mediatypes
Articles (Online) (64)
Bookchapter (Online) (3)
OpenAccess-fulltext (43)
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?
1
ClinVar: improving access to variant interpretations and su..:
Landrum, Melissa J
;
Lee, Jennifer M
;
Benson, Mark
...
Nucleic Acids Research. 46 (2017) D1 - p. D1062-D1067 , 2017
Link:
https://doi.org/10.1093/..
?
2
HGVS Recommendations for the Description of Sequence Varian..:
den Dunnen, Johan T.
;
Dalgleish, Raymond
;
Maglott, Donna R.
...
Human Mutation. 37 (2016) 6 - p. 564-569 , 2016
Link:
https://doi.org/10.1002/..
?
3
Human Variome Project Quality Assessment Criteria for Varia..:
Vihinen, Mauno
;
Hancock, John M.
;
Maglott, Donna R.
...
Human Mutation. 37 (2016) 6 - p. 549-558 , 2016
Link:
https://doi.org/10.1002/..
?
4
Using ClinVar as a Resource to Support Variant Interpretati..:
Harrison, Steven M.
;
Riggs, Erin R.
;
Maglott, Donna R.
...
Current Protocols in Human Genetics. 89 (2016) 1 - p. , 2016
Link:
https://doi.org/10.1002/..
?
5
Reference Databases for Disease Associations:
, In:
Clinical Genomics
,
Rubinstein, Wendy S.
;
Church, Deanna M.
;
Maglott, Donna R.
- p. 191-216 , 2015
Link:
https://doi.org/10.1016/..
?
6
ClinVar: public archive of interpretations of clinically re..:
Landrum, Melissa J.
;
Lee, Jennifer M.
;
Benson, Mark
...
Nucleic Acids Research. 44 (2015) D1 - p. D862-D868 , 2015
Link:
https://doi.org/10.1093/..
?
7
List of Contributors:
, In:
Clinical Genomics
,
Abel, Haley
;
Ajay, Shankar
;
Al-Kateb, Hussam
... - p. xi-xii , 2015
Link:
https://doi.org/10.1016/..
?
8
Gene: a gene-centered information resource at NCBI:
Brown, Garth R.
;
Hem, Vichet
;
Katz, Kenneth S.
...
Nucleic Acids Research. 43 (2014) D1 - p. D36-D42 , 2014
Link:
https://doi.org/10.1093/..
?
9
ClinVar: public archive of relationships among sequence var..:
Landrum, Melissa J.
;
Lee, Jennifer M.
;
Riley, George R.
...
Nucleic Acids Research. 42 (2013) D1 - p. D980-D985 , 2013
Link:
https://doi.org/10.1093/..
?
10
Getting Ready for the Human Phenome Project: The 2012 Forum..:
Oetting, William S.
;
Robinson, Peter N.
;
Greenblatt, Marc S.
...
Human Mutation. , 2013
Link:
https://doi.org/10.1002/..
?
11
RefSeq: an update on mammalian reference sequences:
Pruitt, Kim D.
;
Brown, Garth R.
;
Hiatt, Susan M.
...
Nucleic Acids Research. 42 (2013) D1 - p. D756-D763 , 2013
Link:
https://doi.org/10.1093/..
?
12
Locus Reference Genomic: reference sequences for the report..:
MacArthur, Jacqueline A. L.
;
Morales, Joannella
;
Tully, Ray E.
...
Nucleic Acids Research. 42 (2013) D1 - p. D873-D878 , 2013
Link:
https://doi.org/10.1093/..
?
13
Clone DB: an integrated NCBI resource for clone-associated ..:
Schneider, Valerie A.
;
Chen, Hsiu-Chuan
;
Clausen, Cliff
...
Nucleic Acids Research. 41 (2012) D1 - p. D1070-D1078 , 2012
Link:
https://doi.org/10.1093/..
?
14
The NIH genetic testing registry: a new, centralized databa..:
Rubinstein, Wendy S.
;
Maglott, Donna R.
;
Lee, Jennifer M.
...
Nucleic Acids Research. 41 (2012) D1 - p. D925-D935 , 2012
Link:
https://doi.org/10.1093/..
?
15
Databases in Human and Medical Genetics:
, In:
Vogel and Motulsky's Human Genetics
,
Pagon, Roberta A.
;
Hamosh, Ada
;
Dunnen, Johan den
... - p. 941-960 , 2010
Link:
https://doi.org/10.1007/..
1-15