Weiter zum Inhalt
Toggle navigation
English
English
Favoritenliste (
0
)
(Voll)
Kontakt
Mein Konto
Abmeldung
Mein Konto
Suche
Erweiterte Suche
Suchverlauf
Struktursuche
Narrative Service
Drug Overviews
Info Guide
/vufind/Search/Results?lookfor=%22Daugherty%2C+Louise+C%22&type=Person&sort=year
/vufind/Search/Results?lookfor=%22Daugherty%2C+Louise+C%22&type=Person&sort=year
Search /vufind/Search2/Results?lookfor=%22Daugherty%2C+Louise+C%22&type=Person&sort=year
PubPharm (26)
1
Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders
enthalten in:
bioRxiv.org
| 2024
von
Sanchis-Juan, A.
|
Megy, K.
|
Stephens, J.
| +28
Wird geladen...
2
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
enthalten in:
American journal of human genetics
| 2023
von
Sanchis-Juan, A.
|
Megy, K.
|
Stephens, J.
| +29
Wird geladen...
3
The Gene Curation Coalition : A global effort to harmonize gene-disease evidence resources
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2022
von
DiStefano, M.
|
Goehringer, S.
|
Babb, L.
| +43
Wird geladen...
4
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK : a retrospective diagnostic accuracy and prospective clinical validation study
enthalten in:
The Lancet. Neurology
| 2022
von
Ibañez, K.
|
Polke, J.
|
Hagelstrom, R.
| +120
CommentIn: Lancet Neurol. 2022 Mar;21(3):203. - PMID 35182497
Wird geladen...
5
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources
enthalten in:
bioRxiv.org
| 2022
von
DiStefano, M.
|
Goehringer, S.
|
Babb, L.
| +43
Wird geladen...
6
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report
enthalten in:
The New England journal of medicine
| 2021
von
100,000 Genomes Project Pilot Investigators
|
Smedley, D.
|
Smith, K.
| +98
CommentIn: Nat Med. 2022 Feb;28(2):241-242. - PMID 35132266
Wird geladen...
7
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution
enthalten in:
American journal of human genetics
| 2021
von
Stark, Z.
|
Foulger, R.
|
Williams, E.
| +39
Wird geladen...
8
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage
enthalten in:
Nature cancer
| 2021
von
Zou, X.
|
Koh, G.
|
Nanda, A.
| +101
Wird geladen...
9
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy
enthalten in:
Brain : a journal of neurology
| 2021
von
Pagnamenta, A.
|
Kaiyrzhanov, R.
|
Zou, Y.
| +133
CommentIn: Brain. 2021 Mar 3;144(2):362-365. - PMID 33693694
Wird geladen...
10
Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma
enthalten in:
Scientific reports
| 2021
von
Jones, C.
|
Degasperi, A.
|
Grandi, V.
| +86
Wird geladen...
1
2
3
Nächster »
[3]
Filter & Sortierung
Treffer pro Seite
10
20
50
Sortieren
Relevanz
Neueste zuerst
Älteste zuerst
Verfasser
Zeitschriftentitel
Bibliothek
Standort (Printmedien)
Verwandte Substanzen
Verwandte Substanzen werden ermittelt...
Verwandte Erkrankungen/Symptome
Verwandte Erkrankungen/Symptome werden ermittelt...
Verwandte Gene
Verwandte Gene werden ermittelt...
Systematic Reviews
Clinical Studies
Patente
Covid-19/SARS-CoV-2
Exclude Systematic Reviews
Exclude Clinical Studies
Exclude Patents
Medienart
26
Aufsätze
23
E-Artikel
23
E-Ressourcen
3
Gedruckte Aufsätze
Zeitschriftentitel
3
bioRxiv.org
2
American journal of human genetics
2
Blood
2
Cell
2
Human genomics
1
American journal of respiratory and critical ca...
1
Brain : a journal of neurology
1
Genetics in medicine : official journal of the ...
1
Genome research
1
Nature
1
Nature cancer
1
Nature communications
1
Nature genetics
1
Neuron
1
Nucleic acids research
1
Plant systematics and evolution
1
Scientific reports
1
The Journal of allergy and clinical immunology
1
The Lancet. Neurology
1
The New England journal of medicine
Alle anzeigen ...
weniger ...
Thema
19
Journal Article
19
Research Support, Non-U.S. Gov't
5
Research Support, N.I.H., Extramural
3
whole-genome sequencing
2
Biomarkers
2
GDF2 protein, human
2
Growth Differentiation Factor 2
2
Proteins
2
Review
1
139135-51-6
1
143641-95-6
1
146410-94-8
1
570
1
AQP1 protein, human
1
ARPC1B protein, human
1
ATP13A3 protein, human
1
Actin-Related Protein 2-3 Complex
1
Adaptor Proteins, Signal Transducing
1
Adenosine Triphosphatases
1
Aquaporin 1
Alle anzeigen ...
weniger ...
Erscheinungszeitraum
25
2000-
1
1900-1999
Erscheinungsjahr(e)
Von:
Bis:
Sprache
26
Englisch
Haven't found what you're looking for?
Wird geladen...