E-LIB Suche - Ergebnisse für: Percin, E. Ferda

1

Long-term follow-up and novel variant in Suleiman-El-Hattab..:

Sezer, Abdullah ; Kayhan, Gulsum ; Percin, Ferda E.
European Journal of Medical Genetics. 66 (2023) 9 - p. 104809 , 2023

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

2

Expanding the phenotype and genotype in Thauvin‐Robinet‐Fai..:

Duzenli, Tarik ; Sezer, Abdullah ; Kayhan, Gulsum..
American Journal of Medical Genetics Part A. 191 (2023) 8 - p. 2232-2239 , 2023

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

3

A homozygous missense variant in the WRN gene segregating i..:

Sezer, Abdullah ; Kayhan, Gulsum ; Gursoy, Tugba Ramasli..
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 220-227 , 2022

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

4

Clinical and molecular evaluation of MEFV gene variants in ..:

Dundar, Munis ; Fahrioglu, Umut ; Yildiz, Saliha Handan...
Functional & Integrative Genomics. 22 (2022) 3 - p. 291-315 , 2022

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

5

A new approach (EDIZ) for big data variant prioritization:

Ergun, Mehmet Ali ; Guntekin Ergun, Sezen ; Percin, E. Ferda
Network Modeling Analysis in Health Informatics and Bioinformatics. 8 (2019) 1 - p. , 2019

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

6

LRP5- linked osteoporosis-pseudoglioma syndrome mimicking i..:

Ergun, Sezen Guntekin ; Akay, Guvem Gumus ; Ergun, Mehmet Ali.
European Journal of Medical Genetics. 60 (2017) 3 - p. 200-204 , 2017

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

7

A new method for analysis of whole exome sequencing data (S..:

Ergun, Mehmet Ali ; Unal, Abdullah ; Ergun, Sezen Guntekin.
Informatics in Medicine Unlocked. 8 (2017) - p. 51-53 , 2017

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

8

Chromosomal‐array analysis reveals partial 11q duplication ..:

Tuğ, Esra ; Yirmibeş Karaoğuz, Meral ; Kayhan, Gülsüm..
American Journal of Medical Genetics Part A. 164 (2014) 7 - p. 1770-1776 , 2014

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

9

Modeling Human Retinal Development with Patient-Specific In..:

Phillips, M. Joseph ; Perez, Enio T. ; Martin, Jessica M....
Stem Cells. 32 (2014) 6 - p. 1480-1492 , 2014

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

10

Rectal duplications accompanying rectovestibular fistula: R..:

Pampal, Arzu ; Ozbayoglu, Asli ; Kaya, Cem...
Pediatrics International. 55 (2013) 4 - p. , 2013

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

11

A Turkish family with Nance-Horan syndrome due to a novel m..:

Tug, Esra ; Dilek, Nihal F. ; Javadiyan, Shahrbanou..
Gene. 525 (2013) 1 - p. 141-145 , 2013

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

12

Molecular karyotyping of an isolated partial trisomy 11q pa..:

Kayhan, Gülsüm ; Cavdarli, Büsranur ; Yirmibes Karaoguz, Meral...
Gene. 524 (2013) 2 - p. 355-360 , 2013

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

13

Thiopurine methyltransferase polymorphisms and mercaptopuri..:

Albayrak, Meryem ; Konyssova, Uljan ; Kaya, Zuhre...
Cancer Chemotherapy and Pharmacology. 68 (2011) 5 - p. 1155-1159 , 2011

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

14

A case with de novo inv dup del(8p) associated with dextroc..:

Ergün, Mehmet A. ; Kula, Serdar ; Karaer, Kadri.
Pediatrics International. 52 (2010) 5 - p. 845-846 , 2010

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

15

MEFV gene mutations and its impact on the clinical course i..:

Yıldırım, Beytullah ; Tuncer, Candan ; Kan, Derya...
Rheumatology International. 31 (2010) 7 - p. 859-864 , 2010

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