SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
Borozdin, W, Boehm, D, Leipoldt, M, Wilhelm, C, Reardon, W, Clayton-Smith, J, Becker, K, Mühlendyck, H, Winter, R, Giray, Ö, Silan, F, Kohlhase, J
Published in Journal of medical genetics (01.09.2004)
Published in Journal of medical genetics (01.09.2004)
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Plasminogen activator inhibitor-1 and angiotensin converting enzyme gene polymorphisms in Turkish asthmatic children
Bora, E, Soylar, R, Arıkan-Ayyıldız, Z, Uzuner, N, Giray-Bozkaya, Ö, Erçal, D, Karaman, Ö, Ülgenalp, A
Published in Allergologia et immunopathologia (01.01.2013)
Published in Allergologia et immunopathologia (01.01.2013)
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Analyses of polymorphism for UGT11 exon 1 promoter in neonates with pathologic and prolonged jaundice
ÜLGENALP, A, DUMAN, N, ÖZKAN, H, SCHAEFER, F. V, WHETSELL, L, BORA, E, GÜLCAN, H, KUMRAL, A, ÖREN, H, GIRAY, Ö, ERCAL, D
Published in Biology of the neonate (01.01.2003)
Published in Biology of the neonate (01.01.2003)
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AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
Parisi, M A, Doherty, D, Eckert, M L, Shaw, D W W, Ozyurek, H, Aysun, S, Giray, O, Al Swaid, A, Al Shahwan, S, Dohayan, N, Bakhsh, E, Indridason, O S, Dobyns, W B, Bennett, C L, Chance, P F, Glass, I A
Published in Journal of medical genetics (01.04.2006)
Published in Journal of medical genetics (01.04.2006)
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HYPOPHOSPHATASIA WITH THE ASSOCIATION OF INV(1)(q11,q21.3) AND CLEFT PALATE
Bozkaya, O Giray, Iscan, B, Aksel, O, Duman, N, Kumral, A, Ozkan, H, Ercal, D
Published in Genetic counseling (2016)
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Published in Genetic counseling (2016)
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Three Novel Mutations of CHD7 Gene in Two Turkish Patients with Charge Syndrome; A Double Point Mutation and an Insertion
Giray Bozkaya, Ozlem, Ataman, E., Randa, C., Onur Cura, D., Gürsoy, S., Aksel, O., Ulgenalp, A.
Published in Balkan journal of medical genetics (01.06.2015)
Published in Balkan journal of medical genetics (01.06.2015)
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Journal Article
1 Three novel CFTR mutations found in Turkish patients with cystic fibrosis
Ulgenalp, A, Uzuner, N, Bora, E, Olmez, D, Babayigit, A, Giray, O, Ercal, D, Férec, C
Published in Journal of cystic fibrosis (2007)
Published in Journal of cystic fibrosis (2007)
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162 Characteristics of the patients with cystic fibrosis
Uzuner, N, Urgenalp, A, Babayigit, A, Olmez, D, Giray, O, Cabuk Arslan, N, Ozturk, Y, Bora, E, Karaman, O, Férec, C
Published in Journal of cystic fibrosis (2007)
Published in Journal of cystic fibrosis (2007)
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Investigation of different genomic variants in familial Mediterranean fever cases with monoallelic MEFV mutation
Kocabey, Mehmet, Cankaya, Tufan, Bayram, Meral Torum, Ulgenalp, Ayfer, Caglayan, Ahmet Okay, Giray Bozkaya, Ozlem
Published in Clinical and experimental rheumatology (01.10.2023)
Published in Clinical and experimental rheumatology (01.10.2023)
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PO-0806 Multi-cystic White Matter Enlarged Virchow Robin Spaces In A 5-year-old Boy
Bayram, E, Topcu, Y, Cakmakci, H, Giray, O, Ercal, D, Hiz, S
Published in Archives of disease in childhood (01.10.2014)
Published in Archives of disease in childhood (01.10.2014)
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Journal Article
PO-0806Multi-cystic White Matter Enlarged Virchow Robin Spaces In A 5-year-old Boy
Bayram, E, Topcu, Y, Cakmakci, H, Giray, O, Ercal, D, Hiz, S
Published in Archives of disease in childhood (01.10.2014)
Published in Archives of disease in childhood (01.10.2014)
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Journal Article
Multi-cystic white matter enlarged virchow robin spaces in a 5-year-old boy
Bayram, E, Topcu, Y, Cakmakci, H, Giray, O, Ercal, D, Hiz, S
Published in Archives of disease in childhood (01.10.2014)
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Published in Archives of disease in childhood (01.10.2014)
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Activated protein C reduces endotoxin-induced white matter injury in the developing rat brain
Yesilirmak, Didem Cemile, Kumral, Abdullah, Baskin, Huseyin, Ergur, Bekir Ugur, Aykan, Simge, Genc, Sermin, Genc, Kursad, Yilmaz, Osman, Tugyan, Kazim, Giray, Ozlem, Duman, Nuray, Ozkan, Hasan
Published in Brain research (20.08.2007)
Published in Brain research (20.08.2007)
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An unusual case of monosomy 18p: minor malformations with speech delay
Bora, Elçin, Giray, Ozlem, Ulgenalp, Ayfer, Ozkan, Hasan, Erçal, Derya
Published in Turkish journal of pediatrics (01.04.2005)
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Published in Turkish journal of pediatrics (01.04.2005)
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Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy
Ulgenalp, Ayfer, Giray, Ozlem, Bora, Elçin, Hizli, Tülin, Kurul, Semra, Sağin-Saylam, Gül, Karasoy, Hatice, Uran, Nedret, Dizdarer, Gülşen, Tütüncüoğlu, Sarenur, Dirik, Eray, Ozkinay, Ferda, Erçal, Derya
Published in Turkish journal of pediatrics (01.10.2004)
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Published in Turkish journal of pediatrics (01.10.2004)
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