E-LIB Suche - Ergebnisse für: Dogan, Ozlem Akgun

1

Metabolic and other morbid complications in congenital gene..:

Akinci, Gulcin ; Alyaarubi, Saif ; Patni, Nivedita...
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024

Link: https://doi.org/10.1002/..

2

A novel homozygous missense variant in TBC1D31 in a consang..:

Saygılı, Seha ; Koşukcu, Can ; Baştuğ, Turgut...
Clinical Genetics. 104 (2023) 6 - p. 679-685 , 2023

Link: https://doi.org/10.1111/..

3

Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in..:

Agaoglu, Nihat Bugra ; Ng, Ozden Hatirnaz ; Unal, Busra...
Cancer Genetics. 268-269 (2022) - p. 128-136 , 2022

Link: https://doi.org/10.1016/..

4

Investigation of association between ABO blood groups and C..:

İrvem, Arzu ; Sarmış, Abdurrahman ; Doğan, Özlem Akgün...
Medical Science and Discovery. 8 (2021) 12 - p. 673-676 , 2021

Link: https://doi.org/10.36472..

5

Does sampling saliva increase detection of SARS-CoV-2 by RT..:

Dogan, Ozlem Akgun ; Kose, Betsi ; Agaoglu, Nihat Bugra...
Journal of Virological Methods. 290 (2021) - p. 114049 , 2021

Link: https://doi.org/10.1016/..

6

Genetic panel screening in patients with clinically unclass..:

Demir, Ferhat ; Doğan, Özlem Akgün ; Demirkol, Yasemin Kendir...
Clinical Rheumatology. 39 (2020) 12 - p. 3733-3745 , 2020

Link: https://doi.org/10.1007/..

7

Comparison of the clinical diagnostic criteria and the resu..:

Sözeri, Betül ; Demir, Ferhat ; Sönmez, Hafize Emine...
Clinical Rheumatology. 40 (2020) 6 - p. 2327-2337 , 2020

Link: https://doi.org/10.1007/..

8

The same mutation in a family with adenosine deaminase 2 de..:

Sozeri, Betul ; Ercan, Gozde ; Dogan, Ozlem Akgun...
Rheumatology International. 41 (2019) 1 - p. 227-233 , 2019

Link: https://doi.org/10.1007/..

9

HERC1 mutations in idiopathic intellectual disability:

Utine, G. Eda ; Taşkıran, Ekim Z. ; Koşukcu, Can...
European Journal of Medical Genetics. 60 (2017) 5 - p. 279-283 , 2017

Link: https://doi.org/10.1016/..

10

A Diagnosis to Consider in an Adult Patient with Facial Fea..:

Doğan, Özlem Akgün ; Şimşek Kiper, Pelin Özlem ; Utine, Gülen Eda..
Korean Journal of Family Medicine. 38 (2017) 2 - p. 102 , 2017

Link: https://doi.org/10.4082/..

11

Implication of transcription factor FOXD2 dysfunction in sy..:

Riedhammer, Korbinian M. ; Nguyen, Thanh-Minh T. ; Koşukcu, Can...
Kidney International. 105 (2024) 4 - p. 844-864 , 2024

Link: https://doi.org/10.1016/..

12

Clinical features of generalized lipodystrophy in Turkey: A..:

Yildirim Simsir, Ilgin ; Tuysuz, Beyhan ; Ozbek, Mehmet Nuri...
Diabetes, Obesity and Metabolism. 25 (2023) 7 - p. 1950-1963 , 2023

Link: https://doi.org/10.1111/..

13

Obstacles and expectations of rare disease patients and the..:

Hatirnaz Ng, Ozden ; Sahin, Ilayda ; Erbilgin, Yucel...
Frontiers in Public Health. 10 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

14

Consistency of variant interpretations among bioinformatici..:

Agaoglu, Nihat Bugra ; Unal, Busra ; Akgun Dogan, Ozlem...
European Journal of Human Genetics. 30 (2022) 3 - p. 378-383 , 2022

Link: https://doi.org/10.1038/..

15

COVID-19 PCR test performance on samples stored at ambient ..:

Agaoglu, Nihat Bugra ; Yildiz, Jale ; Akgun Dogan, Ozlem...
Journal of Virological Methods. 301 (2022) - p. 114404 , 2022

Link: https://doi.org/10.1016/..