Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Kasapkara, C. S."'
Mitochondrial DNA (mtDNA) depletion syndrome encompasses a clinically heterogeneous group of disorders sharing marked reduction of mtDNA copy number in one or more tissues. DGUOK (deoxyguanosine kinase, dGK), MPV17, POLG1(polymerase gamma), C100RF2 a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5296d81ddebac1c6620df418a2c1d08e
https://biblio.vub.ac.be/vubir/dguok-related-mitochondrial-depletion-syndrome-in-a-child-with-an-early-diagnosis-of-gsds(ebf32f11-8197-4bba-ac0e-c3054c767062).html
https://biblio.vub.ac.be/vubir/dguok-related-mitochondrial-depletion-syndrome-in-a-child-with-an-early-diagnosis-of-gsds(ebf32f11-8197-4bba-ac0e-c3054c767062).html
Autor:
Abbink, G. E. M., Hasanoglu, A., Tumer, L., Kasapkara, C. S., Aydin, K., Van der Knaap, M. S.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10046::7b84b1b8393b5515161373716e9d5825
https://avesis.gazi.edu.tr/publication/details/48159a78-250f-4728-986b-0c5b9e261b13/oai
https://avesis.gazi.edu.tr/publication/details/48159a78-250f-4728-986b-0c5b9e261b13/oai
Autor:
Ezgu, FATİH SÜHEYL, Kucukcongar, A., Hasanoglu, A., Karagol, Ertog, Kasapkara, C. S., Tumer, L.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10046::3beba7f52e3635e6e0486317db430cee
https://avesis.gazi.edu.tr/publication/details/8b0d5b72-adf2-4949-8b95-4bb611307d96/oai
https://avesis.gazi.edu.tr/publication/details/8b0d5b72-adf2-4949-8b95-4bb611307d96/oai
Autor:
Okur, İLYAS, Kucukcongar, A., Kasapkara, C. S., Eminoglu, F. T., Tumer, L., Hasanoglu, A., Ezgu, FATİH SÜHEYL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10046::cba6bdd053f07a9a4a53c8752f7429c8
https://avesis.gazi.edu.tr/publication/details/f026b1f3-9e5b-4254-88b3-6c127e642c8a/oai
https://avesis.gazi.edu.tr/publication/details/f026b1f3-9e5b-4254-88b3-6c127e642c8a/oai
Autor:
Kokturk, OĞUZ, Kucujcongar, A., Ezgu, FATİH SÜHEYL, Kasapkara, C. S., Tumer, L., Hasanoglu, A., Arslan, A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10046::2640702911bd2d872ec61820d94689e9
https://avesis.gazi.edu.tr/publication/details/bbc8e818-911d-4411-9ea9-17f2aeeccd1f/oai
https://avesis.gazi.edu.tr/publication/details/bbc8e818-911d-4411-9ea9-17f2aeeccd1f/oai
Autor:
BOYUNAGA, ÖZNUR LEMAN, Bedir, TUĞBA, Hasanoglu, A., Kucukcongar, A., TÜMER, LEYLA, Oncu, F., Kasapkara, C. S.
OMD (osteosclerotic metaphyseal dysplasia) is a very rare sclerosing bone disorder, first described by G. Nishimura in two Japanese siblings in 1993 (6). We report the case of a 12-month-old male with hypotonia, developmental delay and sclerosis of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::fb01de8f5f6b7851e65a1ff9ad45ea5c
https://avesis.gazi.edu.tr/publication/details/7a821a91-17ee-4a6c-a9a1-bb08003ada58/oai
https://avesis.gazi.edu.tr/publication/details/7a821a91-17ee-4a6c-a9a1-bb08003ada58/oai