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=%22Smith%2C+Claire+E+L%22&type=Person&sort=year
/vufind/Search/Results?lookfor=%22Smith%2C+Claire+E+L%22&type=Person&sort=year
Search /vufind/Search2/Results?lookfor=%22Smith%2C+Claire+E+L%22&type=Person&sort=year
PubPharm (35)
1
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability
enthalten in:
Journal of medical genetics
| 2024
von
Smith, C.
|
Laugel-Haushalter, V.
|
Hany, U.
| +93
Wird geladen...
2
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta
enthalten in:
Journal of medical genetics
| 2024
von
Hany, U.
|
Watson, C.
|
Liu, L.
| +17
Wird geladen...
3
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategies
enthalten in:
Molecular genetics & genomic medicine
| 2023
von
McClinton, B.
|
Crinnion, L.
|
McKibbin, M.
| +7
Wird geladen...
4
Reply
enthalten in:
Ophthalmology
| 2023
von
Inglehearn, C.
|
Yahya, S.
|
Smith, C.
| +7
Wird geladen...
5
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene
enthalten in:
Ophthalmology
| 2023
von
Yahya, S.
|
Smith, C.
|
Poulter, J.
| +86
CommentIn: Ophthalmology. 2023 Mar;130(3):e9. - PMID 36400609
Wird geladen...
6
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies
enthalten in:
Molecular Genetics & Genomic Medicine
| 2023
von
McClinton, B.
|
Crinnion, L.
|
McKibbin, M.
| +7
Wird geladen...
7
Drug and siRNA screens identify ROCK2 as a therapeutic target for ciliopathies
enthalten in:
bioRxiv.org
| 2022
von
Lake, A.
|
Smith, C.
|
Natarajan, S.
| +8
Wird geladen...
8
Spectrum of pathogenic variants and multiple founder effects in amelogenesis imperfecta associated with MMP20
enthalten in:
bioRxiv.org
| 2021
von
Nikolopoulos, G.
|
Smith, C.
|
Poulter, J.
| +10
Wird geladen...
9
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20
enthalten in:
Human mutation
| 2021
von
Nikolopoulos, G.
|
Smith, C.
|
Poulter, J.
| +12
Wird geladen...
10
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20
enthalten in:
Human mutation
| 2021
von
Nikolopoulos, G.
|
Smith, C.
|
Poulter, J.
| +12
Wird geladen...
1
2
3
4
Nächster »
[4]
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
35
Aufsätze
30
E-Artikel
30
E-Ressourcen
5
Gedruckte Aufsätze
Zeitschriftentitel
7
Human molecular genetics
5
American journal of human genetics
3
BMC medical genetics
2
Frontiers in physiology
2
Human mutation
2
Journal of medical genetics
2
Molecular genetics & genomic medicine
2
Ophthalmology
2
bioRxiv.org
1
Clinical Genetics
1
Clinical genetics
1
European journal of human genetics
1
European journal of human genetics : EJHG
1
Frontiers in cell and developmental biology
1
Molecular Genetics & Genomic Medicine
1
Oral diseases
1
PloS one
Alle anzeigen ...
weniger ...
Thema
22
Journal Article
13
Research Support, Non-U.S. Gov't
6
amelogenesis imperfecta
5
enamel
4
Amelogenesis imperfecta
4
Dental Enamel Proteins
3
Transcription Factors
2
ATPases Associated with Diverse Cellular Activi...
2
Adenosine Triphosphatases
2
Bone mineralization
2
Dentine
2
EC 3.6.1.-
2
EC 3.6.4.-
2
Ectopic mineralisation
2
Homeodomain Proteins
2
Membrane Proteins
2
Mutation
2
PEX1 protein, human
2
PEX6 protein, human
2
Raine syndrome
Alle anzeigen ...
weniger ...
Erscheinungszeitraum
15
2020-
20
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
31
Englisch
Haven't found what you're looking for?
Wird geladen...