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=%22Dyment%2C+David+A.%22&type=Person&sort=year
/vufind/Search/Results?lookfor=%22Dyment%2C+David+A.%22&type=Person&sort=year
Search /vufind/Search2/Results?lookfor=%22Dyment%2C+David+A.%22&type=Person&sort=year
PubPharm (220)
1
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
enthalten in:
Annals of clinical and translational neurology
| 2024
von
Donkervoort, S.
|
Mohassel, P.
|
O'Leary, M.
| +121
Wird geladen...
2
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance
enthalten in:
Journal of human genetics
| 2024
von
Marshall, A.
|
Liang, Y.
|
Couse, M.
| +21
Wird geladen...
3
Recurring homozygous ACTN2 variant (p. Arg506Gly) causes a recessive myopathy
enthalten in:
Annals of Clinical and Translational Neurology
| 2024
von
Donkervoort, S.
|
Mohassel, P.
|
O'Leary, M.
| +20
Wird geladen...
4
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome : a study of 53 patients and review of the literature
enthalten in:
Journal of medical genetics
| 2023
von
Peluso, F.
|
Caraffi, S.
|
Contrò, G.
| +62
Wird geladen...
5
Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction
enthalten in:
Neurology. Genetics
| 2023
von
Warman-Chardon, J.
|
Hartley, T.
|
Marshall, A.
| +14
Wird geladen...
6
First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit
enthalten in:
Pediatric pulmonology
| 2023
von
Hunter-Schouela, J.
|
Geraghty, M.
|
Hegele, R.
| +10
CommentIn: Pediatr Pulmonol. 2023 Sep;58(9):2437-2438. - PMID 37278553
Wird geladen...
7
Bridging clinical care and research in Ontario, Canada : Maximizing diagnoses from reanalysis of clinical exome sequencing data
enthalten in:
Clinical genetics
| 2023
von
Hartley, T.
|
Soubry, .
|
Acker, M.
| +71
Wird geladen...
8
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
enthalten in:
Neurology. Genetics
| 2023
von
Smith, I.
|
Pileggi, C.
|
Wang, Y.
| +20
Wird geladen...
9
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
enthalten in:
American journal of human genetics
| 2023
von
Hiatt, S.
|
Trajkova, S.
|
Sebastiano, M.
| +81
Wird geladen...
10
Bridging clinical care and research in Ontario, Canada : Maximizing diagnoses from reanalysis of clinical exome sequencing data
enthalten in:
Clinical Genetics
| 2023
von
Hartley, T.
|
Soubry, .
|
Acker, M.
| +70
Wird geladen...
1
2
3
4
5
6
7
8
9
10
11
Nächster »
[22]
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
220
Aufsätze
158
E-Artikel
158
E-Ressourcen
62
Gedruckte Aufsätze
Zeitschriftentitel
25
Human molecular genetics
10
American journal of medical genetics. Part A
9
American Journal of Medical Genetics Part C: Se...
9
BMC medical genetics
9
Human mutation
9
Journal of human genetics
9
Journal of neurology
7
American journal of human genetics
7
Current neurology and neuroscience reports
6
BMC neurology
6
Clinical genetics
6
Neurology. Genetics
5
Annals of neurology
5
Neuroepidemiology
4
Journal of neuroimmunology
4
Journal of the neurological sciences
3
American journal of medical genetics. Part C, S...
3
Clinical Genetics
3
European journal of human genetics : EJHG
3
Journal of medical genetics
Alle anzeigen ...
weniger ...
Thema
102
Journal Article
78
Research Support, Non-U.S. Gov't
26
Case Reports
17
Multiple Sclerosis
12
HLA-DR Antigens
12
HLA-DRB1 Chains
11
Review
10
Research Support, N.I.H., Extramural
9
Letter
9
Multiple Sclerosis Risk
8
Next-generation sequencing
7
Genetics
6
Membrane Proteins
6
intellectual disability
5
Epilepsy
5
Microcephaly
5
Multiple Sclerosis Susceptibility
5
Multiple sclerosis
5
Repressor Proteins
5
epilepsy
Alle anzeigen ...
weniger ...
Erscheinungszeitraum
48
2020-
94
2010-2019
75
2000-2009
Erscheinungsjahr(e)
Von:
Bis:
Sprache
168
Englisch
Haven't found what you're looking for?
Wird geladen...