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Uyguner, Oya
115
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Online (115)
Mediatypes
Articles (Online) (66)
OpenAccess-fulltext (49)
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english (89)
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1
Phenotypic features of RETREG1‐related hereditary sensory a..:
Çakar, Arman
;
Bagırova, Gulandam
;
Durmuş, Hacer
..
Journal of the Peripheral Nervous System. 28 (2023) 3 - p. 351-358 , 2023
Link:
https://doi.org/10.1111/..
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2
Frequency of frontotemporal dementia-related gene variants ..:
Artan, Sevilhan
;
Erzurumluoglu Gokalp, Ebru
;
Samanci, Bedia
...
Neurobiology of Aging. 106 (2021) - p. 332.e1-332.e11 , 2021
Link:
https://doi.org/10.1016/..
?
3
A CASE OF POLYCYTHEMIA DIAGNOSED AS HEMOGLOBIN ANDREW-MINNE..:
Bilici, Mustafa
;
Karaman, Serap
;
Unuvar, Aysegul
...
Hematology, Transfusion and Cell Therapy. 43 (2021) - p. S62-S63 , 2021
Link:
https://doi.org/10.1016/..
?
4
A novel PSEN2 p.Ser175Phe variant in a family with Alzheime..:
Guven, Gamze
;
Samanci, Bedia
;
Gulec, Cagri
...
Neurological Sciences. 42 (2021) 6 - p. 2497-2504 , 2021
Link:
https://doi.org/10.1007/..
?
5
Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings w..:
Yuruk Yildirim, Zeynep
;
Toksoy, Guven
;
Uyguner, Oya
...
European Journal of Medical Genetics. 63 (2020) 1 - p. 103621 , 2020
Link:
https://doi.org/10.1016/..
?
6
The Characteristics and Long-Term Course of Epilepsy in Lip..:
Oguz Akarsu, Emel
;
Dinçsoy Bir, Firdevs
;
Baykal, Can
...
Clinical EEG and Neuroscience. 49 (2017) 3 - p. 192-196 , 2017
Link:
https://doi.org/10.1177/..
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7
Homozygous, and compound heterozygous mutation in 3 Turkish..:
Uysal, Fahrettin
;
Turkgenc, Burcu
;
Toksoy, Guven
...
BMC Medical Genetics. 18 (2017) 1 - p. , 2017
Link:
https://doi.org/10.1186/..
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8
ALX4 dysfunction disrupts craniofacial and epidermal develo..:
Kayserili, Hulya
;
Uz, Elif
;
Niessen, Carien
...
Human Molecular Genetics. 18 (2009) 22 - p. 4357-4366 , 2009
Link:
https://doi.org/10.1093/..
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9
MYO15A (DFNB3) mutations in Turkish hearing loss families a..:
Kalay, Ersan
;
Uzumcu, Abdullah
;
Krieger, Elmar
...
American Journal of Medical Genetics Part A. 143A (2007) 20 - p. 2382-2389 , 2007
Link:
https://doi.org/10.1002/..
?
10
Catecholaminergic polymorphic ventricular tachycardia with ..:
Dindar, Aygun
;
Uyguner, Oya
;
Sahin, ES
...
Journal of Electrocardiology. 40 (2007) 4 - p. S14 , 2007
Link:
https://doi.org/10.1016/..
?
11
Mutations in different components of FGF signaling in LADD ..:
Rohmann, Edyta
;
Brunner, Han G
;
Kayserili, Hülya
...
Nature Genetics. 38 (2006) 4 - p. 414-417 , 2006
Link:
https://doi.org/10.1038/..
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12
Erratum: Mutations in different components of FGF signaling..:
Rohmann, Edyta
;
Brunner, Han G
;
Kayserili, Hülya
...
Nature Genetics. 38 (2006) 4 - p. 495-495 , 2006
Link:
https://doi.org/10.1038/..
?
13
Homozygous and heterozygous inheritance of PAX3 mutations c..:
Wollnik, Bernd
;
Tukel, Turgut
;
Uyguner, Oya
...
American Journal of Medical Genetics Part A. 122A (2003) 1 - p. 42-45 , 2003
Link:
https://doi.org/10.1002/..
?
14
Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in..:
Wollnik, Bernd
;
Kayserili, Hulya
;
Uyguner, Oya
..
Annales de Génétique. 45 (2002) 4 - p. 213-217 , 2002
Link:
https://doi.org/10.1016/..
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15
ALX4 related parietal foramina mimicking encephalocele in p..:
Saraç Sivrikoz, Tugba
;
Altunoglu, Umut
;
Kalelioglu, İbrahim Halil
...
Prenatal Diagnosis. 36 (2016) 6 - p. 591-593 , 2016
Link:
https://doi.org/10.1002/..
1-15