Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss
Kalay, E., Karaguzel, A., Caylan, R., Heister, A., Cremers, F.P.M., Cremers, C.W.R.J., Brunner, H.G., de Brouwer, A.P.M., Kremer, H.
Published in Human mutation (01.12.2005)
Published in Human mutation (01.12.2005)
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Journal Article
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome
KALAY, E, DE BROUWER, A. P. M, BRUNNER, H. G, KREMER, H, CAYLAN, R, NABUURS, S. B, WOLLNIK, B, KARAGUZEL, A, HEISTER, J. G. A. M, ERDOL, H, CREMERS, F. P. M, CREMERS, C. W. R. J
Published in Journal of molecular medicine (Berlin, Germany) (01.12.2005)
Published in Journal of molecular medicine (Berlin, Germany) (01.12.2005)
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Journal Article
A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4
KALAY, E, CAYLAN, R, KREMER, H, KIROGLU, A. F, YASAR, T, COLLIN, R. W. J, HEISTER, J. G. A. M, OOSTRIK, J, CREMERS, C. W. R. J, BRUNNER, H. G, KARAGUZEL, A
Published in Journal of molecular medicine (Berlin, Germany) (01.04.2007)
Published in Journal of molecular medicine (Berlin, Germany) (01.04.2007)
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Journal Article
Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance
Celep, F, Uzumcu, A, Sonmez, F M, Uyguner, O, Balci, Y Isik, Bahadir, S, Karaguzel, A
Published in Genetic counseling (2009)
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Published in Genetic counseling (2009)
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Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)
BERNASCONI, F, KARAGÜZEL, A, CELEP, F, KESER, I, LÜLECI, G, DUTLY, F, SCHINZEL, A. A
Published in American journal of human genetics (01.11.1996)
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Published in American journal of human genetics (01.11.1996)
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GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations
Kalay, Ersan, Caylan, Refik, Kremer, Hannie, de Brouwer, Arjan P.M., Karaguzel, Ahmet
Published in Hearing research (01.05.2005)
Published in Hearing research (01.05.2005)
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Journal Article
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein
WATTENHOFER, Marie, SAHIN-CALAPOGLU, Nilüfer, ANTONARAKIS, Stylianos E, ANDREASEN, Ditte, KALAY, Ersan, CAYLAN, Refik, BRAILLARD, Bastien, FOWLER-JAEGER, Nicole, REYMOND, Alexandre, ROSSIER, Bernard C, KARAGUZEL, Ahmet
Published in Human genetics (01.10.2005)
Published in Human genetics (01.10.2005)
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Journal Article
Four novelTMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss
Kalay, E., Karaguzel, A., Caylan, R., Heister, A., Cremers, F.P.M., Cremers, C.W.R.J., Brunner, H.G., de Brouwer, A.P.M., Kremer, H.
Published in Human mutation (01.12.2005)
Published in Human mutation (01.12.2005)
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Journal Article
Detection of Chromosomal Aberrations in Prostate Cancer by Fluorescence In Situ Hybridization (FISH)
Celep, Figen, Karagüzel, Ahmet, Özgür, Güner K, Yildiz, Kadriye
Published in European urology (01.12.2003)
Published in European urology (01.12.2003)
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Journal Article
Analytical and experimental study on actuation time of displacement amplified electromagnetic actuator
Nabae, Hiroyuki, Karaguzel, A. Tugay, Endo, Gen, Suzumori, Koichi
Published in 2017 IEEE International Conference on Advanced Intelligent Mechatronics (AIM) (01.07.2017)
Published in 2017 IEEE International Conference on Advanced Intelligent Mechatronics (AIM) (01.07.2017)
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Conference Proceeding
Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease
Sahin, Nilufer, Tan, Meliha, Kalay, Ersan, Calapoglu, Mustafa, Karaguzel, Ahmet
Published in International journal of neuroscience (01.06.2003)
Published in International journal of neuroscience (01.06.2003)
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Journal Article
Consanguineous marriages in the province of Trabzon, Turkey
Baki, A, Karagüzel, A, Beser, E, Cakmakçi, T, Uçar, F, Omeroglu, A
Published in East African medical journal (01.02.1992)
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Published in East African medical journal (01.02.1992)
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