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Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing. [electronic resource] by
- Ezgu, Fatih
- Çiftci, Bahattin
- Topçu, Burcu
- Adıyaman, Gülcan
- Gökmenoğlu, Hatice
- Küçükçongar, Aynur
- Kasapkara, Çiğdem
- Biberoğlu, Gürsel
- Tümer, Leyla
- Hasanoğlu, Alev
Producer: 20150602
In:
Metabolic brain disease vol. 29
Availability: No items available.
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Apheresis-inducible cytokine pattern change in children with homozygous familial hypercholesterolemia. [electronic resource] by
- Küçükçongar, Aynur
- Yenicesu, Idil
- Tümer, Leyla
- Kasapkara, Ciğdem Seher
- Ezgü, Fatih Süheyl
- Paşaoğlu, Ozge
- Demirtaş, Canan
- Celik, Bülent
- Dilsiz, Günter
- Hasanoğlu, Alev
Producer: 20140103
In:
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis vol. 48
Availability: No items available.
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8.
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Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey. [electronic resource] by
- Teke Kisa, Pelin
- Kose, Melis
- Unal, Ozlem
- Er, Esra
- Hismi, Burcu Ozturk
- Bulbul, Fatma Selda
- Kose, Engin
- Gunduz, Mehmet
- Canda, Ebru
- Kucukcongar, Aynur
- Arslan, Nur
Producer: 20191227
In:
Journal of pediatric endocrinology & metabolism : JPEM vol. 32
Availability: No items available.
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High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease. [electronic resource] by
- Koca, Serhat
- Tümer, Leyla
- Okur, İlyas
- Erten, Yasemin
- Bakkaloğlu, Sevcan
- Biberoğlu, Gürsel
- Kasapkara, Çiğdem
- Küçükçongar, Aynur
- Dalgıç, Buket
- Oktar, Suna Özhan
- Öner, Yusuf
- Atalay, Tuba
- Cemri, Mustafa
- Çiftçi, Bahattin
- Topçu, Burcu
- Hasanoğlu, Alev
- Ezgü, Fatih
Producer: 20190118
In:
Gene vol. 687
Availability: No items available.
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