Takip et
Ferda Ozkinay
Ferda Ozkinay
ege.edu.tr üzerinde doğrulanmış e-posta adresine sahip
Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease
E Karaca, T Harel, D Pehlivan, SN Jhangiani, T Gambin, ZC Akdemir, ...
Neuron 88 (3), 499-513, 2015
2932015
A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
D Wieczorek, N Bögershausen, F Beleggia, S Steiner-Haldenstätt, E Pohl, ...
Human molecular genetics 22 (25), 5121-5135, 2013
2402013
Rotavirus gastroenteritis among children under five years of age in Izmir, Turkey
Z Kurugöl, F Ozkinay, I Yaprak, M Bak, F Vardar, S Erensoy, F Umay, ...
The Turkish Journal of Pediatrics 45 (4), 290-294, 2003
2222003
Evaluation of the relationship between caries indices and salivary secretory IgA, salivary pH, buffering capacity and flow rate in children with Down's syndrome
D Cogulu, E Sabah, N Kutukculer, F Ozkinay
Archives of oral biology 51 (1), 23-28, 2006
1452006
Testing the psychosis continuum: differential impact of genetic and nongenetic risk factors and comorbid psychopathology across the entire spectrum of psychosis
T Binbay, M Drukker, H Elbi, FA Tanık, F Özkınay, H Onay, N Zağlı, ...
Schizophrenia Bulletin 38 (5), 992-1002, 2012
1362012
Two genes are responsible for Griscelli syndrome at the same 15q21 locus
E Pastural, F Ersoy, N Yalman, N Wulffraat, E Grillo, F Ozkinay, I Tezcan, ...
Genomics 63 (3), 299-306, 2000
1302000
SMOC1 is essential for ocular and limb development in humans and mice
I Okada, H Hamanoue, K Terada, T Tohma, A Megarbane, E Chouery, ...
The American Journal of Human Genetics 88 (1), 30-41, 2011
1222011
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice
J Rainger, E van Beusekom, JK Ramsay, L McKie, L Al-Gazali, R Pallotta, ...
PLoS genetics 7 (7), e1002114, 2011
982011
Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients
MO Kılınç, VN Ninis, E Dağlı, M Demirkol, F Özkınay, Z Arıkan, Ö Çoğulu, ...
American journal of medical genetics 113 (3), 250-257, 2002
892002
Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: report and review
M Akgul, F Ozkinay, D Ercal, O Cogulu, O Dogan, B Altay, E Tavmergen, ...
Journal of assisted reproduction and genetics 26, 119-122, 2009
872009
MEFV mutations in patients with familial Mediterranean fever from the Aegean region of Turkey
H Akin, H Onay, E Turker, O Cogulu, F Ozkinay
Molecular biology reports 37, 93-98, 2010
862010
The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation
J Schreml, B Durmaz, O Cogulu, K Keupp, F Beleggia, E Pohl, E Milz, ...
Human genetics 133, 29-39, 2014
822014
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
I Parenti, ME Teresa-Rodrigo, J Pozojevic, S Ruiz Gil, I Bader, ...
Human genetics 136, 307-320, 2017
812017
Complications of varicella in healthy children in Izmir, Turkey
G Koturoglu, Z Kurugöl, N Çetin, M Hizarcioglu, F Vardar, M Helvaci, ...
Pediatrics international 47 (3), 296-299, 2005
812005
Comprehensive analysis of deafness genes in families with autosomal recessive nonsyndromic hearing loss
T Atik, H Onay, A Aykut, G Bademci, T Kirazli, M Tekin, F Ozkinay
PloS one 10 (11), e0142154, 2015
802015
A Novel Homozygous Ala529Val LMNA Mutation in Turkish Patients with Mandibuloacral Dysplasia
A Garg, O Cogulu, F Ozkinay, H Onay, AK Agarwal
The Journal of Clinical Endocrinology & Metabolism 90 (9), 5259-5264, 2005
742005
Evaluation of 80 children with prolonged fever
O Cogulu, G Koturoglu, Z Kurugol, F Ozkinay, F Vardar, C Ozkinay
Pediatrics international 45 (5), 564-569, 2003
702003
Low levels of mannose-binding lectin confers protection against tuberculosis in Turkish children
H Cosar, F Ozkinay, H Onay, N Bayram, AR Bakiler, M Anıl, D Can, ...
European journal of clinical microbiology & infectious diseases 27, 1165-1169, 2008
652008
Prospective evaluation of whole genome microRNA expression profiling in childhood acute lymphoblastic leukemia
M Duyu, B Durmaz, C Gunduz, C Vergin, D Yilmaz Karapinar, S Aksoylar, ...
BioMed research international 2014, 2014
632014
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome
E Pohl, A Aykut, F Beleggia, E Karaca, B Durmaz, K Keupp, E Arslan, ...
Human genetics 132, 1311-1320, 2013
622013
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