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=%22Mochel%2C+Fanny%22&type=Person&sort=year
/vufind/Search/Results?lookfor=%22Mochel%2C+Fanny%22&type=Person&sort=year
Search /vufind/Search2/Results?lookfor=%22Mochel%2C+Fanny%22&type=Person&sort=year
PubPharm (282)
1
What can pediatricians learn from adult inherited metabolic diseases?
enthalten in:
Journal of inherited metabolic disease
| 2024
von
Mochel, F.
Wird geladen...
2
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management
enthalten in:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
| 2024
von
Laugwitz, L.
|
Schoenmakers, D.
|
Adang, L.
| +25
Wird geladen...
3
Genotype-specific spinal cord damage in spinocerebellar ataxias : an ENIGMA-Ataxia study
enthalten in:
Journal of neurology, neurosurgery, and psychiatry
| 2024
von
Rezende, T.
|
Adanyaguh, I.
|
Barsottini, O.
| +30
Wird geladen...
4
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
enthalten in:
Orphanet journal of rare diseases
| 2024
von
Schoenmakers, D.
|
Mochel, F.
|
Adang, L.
| +13
Wird geladen...
5
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
enthalten in:
Orphanet journal of rare diseases
| 2024
von
Schoenmakers, D.
|
Mochel, F.
|
Adang, L.
| +13
Wird geladen...
6
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
enthalten in:
EBioMedicine
| 2024
von
Méreaux, J.
|
Davoine, C.
|
Pellerin, D.
| +44
Wird geladen...
7
CYP2U1 : An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers
enthalten in:
Molecular genetics and metabolism reports
| 2024
von
Wong, S.
|
Yuen, L.
|
Kan, E.
| +7
Wird geladen...
8
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
enthalten in:
Brain : a journal of neurology
| 2023
von
Lischka, A.
|
Eggermann, K.
|
Record, C.
| +79
Wird geladen...
9
Hearing Rehabilitation in Patients with SERAC1 Related MEGD(H)EL Syndrome
enthalten in:
ResearchSquare.com
| 2023
von
Roesch, S.
|
O´Sullivan, A.
|
Tschani, S.
| +26
Wird geladen...
10
Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis
enthalten in:
Annals of physical and rehabilitation medicine
| 2023
von
Lallemant-Dudek, P.
|
Parodi, L.
|
Coarelli, G.
| +11
Wird geladen...
1
2
3
4
5
6
7
8
9
10
11
Nächster »
[29]
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
282
Aufsätze
228
E-Artikel
228
E-Ressourcen
54
Gedruckte Aufsätze
Zeitschriftentitel
45
Journal of inherited metabolic disease
18
Europäisches Patentamt
13
Orphanet journal of rare diseases
12
Annals of neurology
12
Brain : a journal of neurology
11
Neurology
9
American journal of human genetics
8
Journal of Inherited Metabolic Disease
6
Journal of neurology, neurosurgery, and psychiatry
5
Molecular genetics and metabolism
4
Acta neuropathologica
4
Biochimica et biophysica acta
4
European journal of medical genetics
4
Journal of clinical immunology
4
Journal of community genetics
4
Journal of neurology
3
Alzheimer's & dementia : the journal of the Alz...
3
Alzheimer's research & therapy
3
Brain
3
JAMA neurology
Alle anzeigen ...
weniger ...
Thema
147
Journal Article
85
Research Support, Non-U.S. Gov't
24
Research Support, N.I.H., Extramural
21
Case Reports
19
Biomarkers
18
615
18
che
17
Review
15
A61K: Preparations for medical, dental, or toil...
11
Letter
11
Triglycerides
10
Multicenter Study
9
2P6O7CFW5K
9
triheptanoin
8
A23L: Foods, foodstuffs, or non-alcoholic bever...
8
Cerebellar ataxia
8
tec
7
Amyloid beta-Peptides
7
DNA, Mitochondrial
7
Diagnosis
Alle anzeigen ...
weniger ...
Erscheinungszeitraum
89
2020-
173
2010-2019
19
2000-2009
Erscheinungsjahr(e)
Von:
Bis:
Sprache
236
Englisch
4
Spanisch
3
Unbestimmt
2
Französisch
Haven't found what you're looking for?
Wird geladen...