E-LIB Suche - Ergebnisse für: Daugherty, Louise

1

The InterPro protein families database: the classification ..:

Mitchell, Alex ; Chang, Hsin-Yu ; Daugherty, Louise...
Nucleic Acids Research. 43 (2014) D1 - p. D213-D221 , 2014

2

Genome sequencing and comprehensive rare-variant analysis o..:

Sanchis-Juan, Alba ; Megy, Karyn ; Stephens, Jonathan...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1343-1355 , 2023

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

3

Whole genome sequencing for the diagnosis of neurological r..:

Ibañez, Kristina ; Polke, James ; Hagelstrom, R Tanner...
The Lancet Neurology. 21 (2022) 3 - p. 234-245 , 2022

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

4

The Gene Curation Coalition: A global effort to harmonize g..:

DiStefano, Marina T. ; Goehringer, Scott ; Babb, Lawrence...
Genetics in Medicine. 24 (2022) 8 - p. 1732-1742 , 2022

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

5

Spectrum of mutational signatures in T-cell lymphoma reveal..:

Jones, Christine L. ; Degasperi, Andrea ; Grandi, Vieri...
Scientific Reports. 11 (2021) 1 - p. , 2021

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

6

PanelApp crowdsources expert knowledge to establish consens..:

Martin, Antonio Rueda ; Williams, Eleanor ; Foulger, Rebecca E....
Nature Genetics. 51 (2019) 11 - p. 1560-1565 , 2019

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

7

Identification of rare sequence variation underlying herita..:

Gräf, Stefan ; Haimel, Matthias ; Bleda, Marta...
Nature Communications. 9 (2018) 1 - p. , 2018

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

8

The Allelic Landscape of Human Blood Cell Trait Variation a..:

Astle, William J. ; Elding, Heather ; Jiang, Tao...
Cell. 167 (2016) 5 - p. 1415-1429.e19 , 2016

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

9

Genenames.org: the HGNC resources in 2013:

Gray, Kristian A. ; Daugherty, Louise C. ; Gordon, Susan M....
Nucleic Acids Research. 41 (2012) D1 - p. D545-D552 , 2012

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

10

Gene family matters: expanding the HGNC resource:

Daugherty, Louise C. ; Seal, Ruth L. ; Wright, Mathew W..
Human Genomics. 6 (2012) 1 - p. , 2012

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

11

A trnL-F based phylogeny for species ofPelargonium (Gerania..:

Bakker, Freek T. ; Culham, Alastair ; Daugherty, Louise C..
Plant Systematics and Evolution. 216 (1999) 3-4 - p. 309-324 , 1999

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

12

A trnL—F based phylogeny for species of Pelargonium (Gerani..:

Bakker, Freek T. ; Culham, Alastair ; Daugherty, Louise C..
Plant Systematics and Evolution. 216 (1999) 3/4 - p. 309-324 , 1999

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

13

Diagnostic high-throughput sequencing of 2396 patients with..:

Downes, Kate ; Megy, Karyn ; Duarte, Daniel...
Downes , K , Megy , K , Duarte , D , Vries , M , Gebhart , J , Hofer , S , Shamardina , O , Deevi , S V V , Stephens , J , Mapeta , R , Tuna , S , Al Hasso , N , Besser , M W , Cooper , N , Daugherty , L , Gleadall , N , Greene , D , Haimel , M , Martin , H , Papadia , S , Revel-Vilk , S , Sivapalaratnam , S , Symington , E , Thomas , W , Thys , C , Tolios , A , Penkett , C J , Ouwehand , W H , Abbs , S , Laffan , M A , Turro , E , Simeoni , I , Mumford , A D , Henskens , Y M C , Pabinger , I , Gomez , K , Freson , K & NIHR BioResource 2019 , ' Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders ' , Blood , vol. 134 , no. 23 , pp. 2082-2091 . https://doi.org/10.1182/blood.2018891192. , 2019

Link: https://cris.maastrichtu..

14

Diagnostic high-throughput sequencing of 2396 patients with..:

Downes, Kate ; Megy, Karyn ; Duarte, Daniel...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993014/. , 2019

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

15

Diagnostic high-throughput sequencing of 2396 patients with..:

Downes, Kate ; Megy, Karyn ; Duarte, Daniel...
Downes , K , Megy , K , Duarte , D , Vries , M , Gebhart , J , Hofer , S , Shamardina , O , Deevi , S V V , Stephens , J , Mapeta , R , Tuna , S , Hasso , N A , Besser , M W , Cooper , N , Daugherty , L , Gleadall , N , Greene , D , Haimel , M , Martin , H , Papadia , S , Revel-Vilk , S , Sivapalaratnam , S , Symington , E , Thomas , W , Thys , C , Tolios , A , Penkett , C J , BioResource , N , Ouwehand , W H , Abbs , S , Laffan , M A , Turro , E , Simeoni , I , Mumford , A D , Henskens , Y M C , Pabinger , I , Gomez , K & Freson , K 2019 , ' Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders ' , Blood , vol. 134 , no. 23 , pp. 2082-2091 . https://doi.org/10.1182/blood.2018891192. , 2019

Link: https://hdl.handle.net/1..