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Özgül, K.
211
results:
Search for persons
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Online (211)
Mediatypes
Articles (Online) (89)
Bookchapter (Online) (5)
OpenAccess-fulltext (117)
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?
1
Maple syrup urine disease: Mutation analysis in Turkish pat..:
Dursun, A.
;
Henneke, M.
;
Özgül, K.
...
Journal of Inherited Metabolic Disease. 25 (2002) 2 - p. 89-97 , 2002
Link:
https://doi.org/10.1023/..
?
2
The Phenotype of Arg555 Trp Mutation in a Large Turkish Fam..:
Kiratli, H.
;
Irkeç, M.
;
Özgül, K.
.
European Journal of Ophthalmology. 11 (2001) 4 - p. 333-337 , 2001
Link:
https://doi.org/10.1177/..
?
3
Clinical highlights of a very rare phospolipid remodeling d..:
Dursun, Ali
;
Yalnızoğlu, Dilek
;
Özgül, Rıza K.
..
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 183 (2019) 1 - p. 3-4 , 2019
Link:
https://doi.org/10.1002/..
?
4
The genotypic and phenotypic spectrum of MTO1 deficiency:
O'Byrne, James J.
;
Tarailo-Graovac, Maja
;
Ghani, Aisha
...
Molecular Genetics and Metabolism. 123 (2018) 1 - p. 28-42 , 2018
Link:
https://doi.org/10.1016/..
?
5
Genotypic‐phenotypic features and enzyme replacement therap..:
Kılıç, Mustafa
;
Dursun, Ali
;
Coşkun, Turgay
...
American Journal of Medical Genetics Part A. 173 (2017) 11 - p. 2954-2967 , 2017
Link:
https://doi.org/10.1002/..
?
6
Haplotype analysis of non-HLA immunogenetic loci in Turkish..:
Karaca, Sefayet
;
Karaca, Mehmet
;
Civelek, Ersoy
...
Gene. 587 (2016) 2 - p. 132-136 , 2016
Link:
https://doi.org/10.1016/..
?
7
Allergy-specific Phenome-Wide Association Study for Immunog..:
Karaca, Sefayet
;
Civelek, Ersoy
;
Karaca, Mehmet
...
Scientific Reports. 6 (2016) 1 - p. , 2016
Link:
https://doi.org/10.1038/..
?
8
Retinitis pigmentosa caused by mutations in the ciliary MAK..:
van Huet, Ramon A. C.
;
Siemiatkowska, Anna M.
;
Özgül, Riza K.
...
Acta Ophthalmologica. 93 (2014) 1 - p. 83-94 , 2014
Link:
https://doi.org/10.1111/..
?
9
Maple syrup urine disease: Mutation analysis in Turkish pat..:
Dursun, A
;
Henneke, M
;
Ozgul, K
...
https://aperta.ulakbim.gov.tr/record/97711. , 2002
Link:
https://aperta.ulakbim.g..
?
10
Autosomal recessive spastic ataxia of Charlevoix-Saguenay i..:
Gucuyener, K
;
Ozgul, K
;
Paternotte, C
...
https://aperta.ulakbim.gov.tr/record/94907. , 2001
Link:
https://aperta.ulakbim.g..
?
11
The genotypic and phenotypic spectrum of MTO1 deficiency:
O'Byrne, James J
;
Tarailo-Graovac, Maja
;
Ghani, Aisha
...
https://aperta.ulakbim.gov.tr/record/31029. , 2018
Link:
https://aperta.ulakbim.g..
?
12
The genotypic and phenotypic spectrum of MTO1 deficiency:
O'Byrne, James J
;
Tarailo-Graovac, Maja
;
Ghani, Aisha
...
https://mediatum.ub.tum.de/1536502. , 2018
Link:
https://mediatum.ub.tum...
?
13
The Genotypic and Phenotypic Spectrum of Mto1 Deficiency:
O'Byrne, James J
;
Tarailo-Graovac, Maja
;
Ghani, Aisha
...
10.1016/j.ymgme.2017.11.003. , 2018
Link:
http://hdl.handle.net/11..
?
14
The genotypic and phenotypic spectrum of MTO1 deficiency:
O'Byrne, James J
;
Tarailo-Graovac, Maja
;
Ghani, Aisha
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780301/. , 2018
Link:
http://www.ncbi.nlm.nih...
?
15
The genotypic and phenotypic spectrum of MTO1 deficiency:
O'Byrne, James J
;
Tarailo-Graovac, Maja
;
Ghani, Aisha
...
https://www.repository.cam.ac.uk/handle/1810/290338. , 2018
Link:
https://www.repository.c..
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