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=%22Manoli%2C+Irini%22&type=Person&sort=year
/vufind/Search/Results?lookfor=%22Manoli%2C+Irini%22&type=Person&sort=year
Search /vufind/Search2/Results?lookfor=%22Manoli%2C+Irini%22&type=Person&sort=year
PubPharm (118)
1
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation
enthalten in:
JCI insight
| 2024
von
Manoli, I.
|
Sysol, J.
|
Head, P.
| +24
Wird geladen...
2
Intellectual disability and autism in propionic acidemia : a biomarker-behavioral investigation implicating dysregulated mitochondrial biology
enthalten in:
Molecular psychiatry
| 2024
von
Shchelochkov, O.
|
Farmer, C.
|
Chlebowski, C.
| +9
Wird geladen...
3
Inability to move one's face dampens facial expression perception
enthalten in:
Cortex; a journal devoted to the study of the nervous system and behavior
| 2023
von
Japee, S.
|
Jordan, J.
|
Licht, J.
| +10
Wird geladen...
4
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia
enthalten in:
Journal of inherited metabolic disease
| 2023
von
Manoli, I.
|
Gebremariam, A.
|
McCoy, S.
| +13
Wird geladen...
5
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
enthalten in:
Nature genetics
| 2023
von
Tenney, A.
|
Di Gioia, S.
|
Webb, B.
| +55
Wird geladen...
6
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia
enthalten in:
Journal of Inherited Metabolic Disease
| 2023
von
Manoli, I.
|
Gebremariam, A.
|
McCoy, S.
| +13
Wird geladen...
7
Systemic gene therapy for methylmalonic acidemia using the novel adeno-associated viral vector 44.9
enthalten in:
Molecular therapy. Methods & clinical development
| 2022
von
Chandler, R.
|
Di Pasquale, G.
|
Sloan, J.
| +6
Wird geladen...
8
Inability to make facial expressions dampens emotion perception
enthalten in:
bioRxiv.org
| 2022
von
Japee, S.
|
Jordan, J.
|
Licht, J.
| +9
Wird geladen...
9
Diagnosis and discovery : Insights from the NIH Undiagnosed Diseases Program
enthalten in:
Journal of inherited metabolic disease
| 2022
von
Montano, C.
|
Cassini, T.
|
Ziegler, S.
| +12
Wird geladen...
10
Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin
enthalten in:
Science translational medicine
| 2022
von
Head, P.
|
Myung, S.
|
Chen, Y.
| +9
CommentIn: Sci Transl Med. 2022 May 25;14(646):eabq4863. - PMID 35613282
Wird geladen...
1
2
3
4
5
6
7
8
9
10
11
Nächster »
[12]
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
118
Aufsätze
86
E-Artikel
86
E-Ressourcen
32
Gedruckte Aufsätze
Zeitschriftentitel
10
Journal of inherited metabolic disease
9
Europäisches Patentamt
8
Genetics in medicine : official journal of the ...
5
American journal of medical genetics. Part A
4
Genetics in medicine
4
Molecular genetics and metabolism
3
BMC cancer
3
BMC neurology
3
Human gene therapy
3
Nature genetics
2
American Journal of Medical Genetics Part C: Se...
2
American journal of human genetics
2
BioTechniques
2
Current opinion in clinical nutrition and metab...
2
FASEB journal : official publication of the Fed...
2
Human genetics
2
Human genetics <Berlin>
2
JCI insight
2
Journal of Inherited Metabolic Disease
2
Molecular therapy. Methods & clinical development
Alle anzeigen ...
weniger ...
Thema
57
Journal Article
29
Research Support, N.I.H., Intramural
19
Research Support, N.I.H., Extramural
10
Research Support, Non-U.S. Gov't
10
Review
9
615
9
A61K: Preparations for medical, dental, or toil...
9
che
8
Case Reports
7
Biomarkers
7
Methylmalonic Acid
6
Inborn Error
5
A61P: Specific therapeutic activity of chemical...
5
EC 5.4.99.2
5
Methylmalonyl-CoA Mutase
4
8LL8S712J7
4
Klinische Studie
4
RNA, Messenger
4
Receptors, Glucocorticoid
3
Aspiration Pneumonitis
Alle anzeigen ...
weniger ...
Erscheinungszeitraum
36
2020-
57
2010-2019
25
2000-2009
Erscheinungsjahr(e)
Von:
Bis:
Sprache
97
Englisch
Haven't found what you're looking for?
Wird geladen...