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Uyguner, Oya
115  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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