E-LIB Suche - Ergebnisse für: Köroğlu, Çiğdem

1

Association of protein function-altering variants with card..:

Shan, Yue ; Cole, Shelley A. ; Haack, Karin...
Scientific Reports. 12 (2022) 1 - p. , 2022

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

2

Functional characterization of a novel p.Ser76Thr variant i..:

Muller, Yunhua L. ; Saporito, Michael ; Day, Samantha...
European Journal of Human Genetics. , 2022

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

3

Functional variants in cytochrome b5 type A (CYB5A) are enr..:

Day, Samantha E. ; Traurig, Michael ; Kumar, Pankaj...
Obesity. 30 (2022) 2 - p. 546-552 , 2022

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

4

A missense variant Arg611Cys in LIPE which encodes hormone ..:

Muller, Yunhua L. ; Sutherland, Jeff ; Nair, Anup K....
Diabetes/Metabolism Research and Reviews. 38 (2021) 3 - p. , 2021

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

5

Next generation sequencing for HLA loci in full heritage Pi..:

Williams, Robert C. ; Koroglu, Cigdem ; Knowler, William C....
Human Immunology. 82 (2021) 6 - p. 385-403 , 2021

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

6

Exome Sequencing of 21 Bardet‐Biedl Syndrome (BBS) Genes to..:

Day, Samantha E. ; Muller, Yunhua L. ; Koroglu, Cigdem...
Obesity. 29 (2021) 4 - p. 748-754 , 2021

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

7

Exome Sequencing Identifies A Nonsense Variant in DAO Assoc..:

Piaggi, Paolo ; Köroğlu, Çiğdem ; Nair, Anup K...
The Journal of Clinical Endocrinology & Metabolism. 105 (2020) 11 - p. e3989-e4000 , 2020

Link: https://doi.org/10.1210/..

8

Assessing established BMI variants for a role in nighttime ..:

Köroğlu, Çiğdem ; Gluck, Marci E. ; Traurig, Michael...
European Journal of Clinical Nutrition. 74 (2020) 12 - p. 1718-1724 , 2020

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

9

Severe neurodegenerative disease in brothers with homozygou..:

Kara, Bülent ; Köroğlu, Çiğdem ; Peltonen, Karita...
European Journal of Human Genetics. 25 (2017) 3 - p. 315-323 , 2017

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

10

GNE missense mutation in recessive familial amyotrophic lat..:

Köroğlu, Çiğdem ; Yılmaz, Rezzak ; Sorgun, Mine Hayriye..
neurogenetics. 18 (2017) 4 - p. 237-243 , 2017

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

11

DNAJC6 is responsible for juvenile parkinsonism with phenot..:

Köroğlu, Çiğdem ; Baysal, Leyla ; Cetinkaya, Murat..
Parkinsonism & Related Disorders. 19 (2013) 3 - p. 320-324 , 2013

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

12

A homozygous frameshift mutation of sepiapterin reductase g..:

Lohmann, Ebba ; Köroğlu, Çiğdem ; Hanagasi, Hasmet A....
Parkinsonism & Related Disorders. 18 (2012) 2 - p. 191-193 , 2012

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

13

Autosomal recessive spastic paraplegia (SPG45) with mental ..:

Dursun, Umut ; Koroglu, Cigdem ; Kocasoy Orhan, Elif..
neurogenetics. 10 (2009) 4 - p. 325-331 , 2009

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

14

Association of protein function-altering variants with card..:

Shan, Yue ; Cole, Shelley A ; Haack, Karin...
https://research.rug.nl/en/publications/9ed95a31-5654-4eba-9235-f2afa0599b96. , 2022

Link: https://hdl.handle.net/1..

15

Functional variants in cytochrome b5 type A (CYB5A) are enr..:

Day, Samantha E ; Traurig, Michael ; Kumar, Pankaj...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9304561/. , 2022

Link: http://www.ncbi.nlm.nih...