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=%22Bademci%2C+Guney%22&type=Person&sort=year
/vufind/Search/Results?lookfor=%22Bademci%2C+Guney%22&type=Person&sort=year
Search /vufind/Search2/Results?lookfor=%22Bademci%2C+Guney%22&type=Person&sort=year
PubPharm (166)
1
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism
enthalten in:
Annals of clinical and translational neurology
| 2024
von
Dohrn, M.
|
Bademci, G.
|
Rebelo, A.
| +110
Wird geladen...
2
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Ezell, K.
|
Tinker, R.
|
Furuta, Y.
| +110
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.
| +121
Wird geladen...
4
Two novel heterozygous exonic deletions lead to Chanarin-Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Zoullas, S.
|
Morel, D.
|
Zafeer, F.
| +5
Wird geladen...
5
De novo variants in DENND5B cause a neurodevelopmental disorder
enthalten in:
American journal of human genetics
| 2024
von
Scala, M.
|
Tomati, V.
|
Ferla, M.
| +134
Wird geladen...
6
Exome and genome sequencing in a heterogeneous population of patients with rare disease : Identifying predictors of a diagnosis
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Pucel, J.
|
Briere, L.
|
Reuter, C.
| +103
Wird geladen...
7
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
enthalten in:
Nature communications
| 2024
von
Nashabat, M.
|
Nabavizadeh, N.
|
Saraçoğlu, H.
| +56
Wird geladen...
8
Genetic heterogeneity in hereditary hearing loss : Potential role of kinociliary protein TOGARAM2
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Ramzan, M.
|
Zafeer, M.
|
Abad, C.
| +11
Wird geladen...
9
Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Duman, D.
|
Ramzan, M.
|
Subasioglu, A.
| +9
Wird geladen...
10
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Forghani, I.
|
Lang, S.
|
Rodier, M.
| +106
Wird geladen...
1
2
3
4
5
6
7
8
9
10
11
Nächster »
[17]
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
166
Aufsätze
148
E-Artikel
148
E-Ressourcen
18
Gedruckte Aufsätze
Zeitschriftentitel
15
Genetics in medicine : official journal of the ...
14
American journal of human genetics
8
American journal of medical genetics. Part A
6
Human genetics
6
Human genetics <Berlin>
6
Proceedings of the National Academy of Sciences...
5
International journal of pediatric otorhinolary...
5
Molecular genetics & genomic medicine
5
Orphanet journal of rare diseases
4
American Journal of Medical Genetics Part C: Se...
4
Human mutation
4
Journal of genetic counseling
4
PloS one
3
Annals of clinical and translational neurology
3
Annals of human genetics
3
BMC medical genetics
3
Brain : a journal of neurology
3
Human molecular genetics
3
Journal of molecular medicine
3
Molecular genetics and genomics
Alle anzeigen ...
weniger ...
Thema
107
Journal Article
68
Research Support, N.I.H., Extramural
52
Research Support, Non-U.S. Gov't
19
Case Reports
10
Hearing loss
8
Research Support, N.I.H., Intramural
8
hearing loss
7
intellectual disability
6
Membrane Proteins
5
Deafness
5
GJB2 protein, human
5
Hair cells
5
Stereocilia
4
127120-53-0
4
Carrier Proteins
4
Connexin 26
4
Drosophila
4
EC 2.7.11.1
4
EC 3.6.1.-
4
Exome sequencing
Alle anzeigen ...
weniger ...
Erscheinungszeitraum
81
2020-
85
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
148
Englisch
Haven't found what you're looking for?
Wird geladen...