Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases
Ranza, E., Huber, C., Levin, N., Baujat, G., Bole‐Feysot, C., Nitschke, P., Masson, C., Alanay, Y., Al‐Gazali, L., Bitoun, P., Boute, O., Campeau, P., Coubes, C., McEntagart, M., Elcioglu, N., Faivre, L., Gezdirici, A., Johnson, D., Mihci, E., Nur, B.G., Perrin, L., Quelin, C., Terhal, P., Tuysuz, B., Cormier‐Daire, V.
Published in Clinical genetics (01.06.2017)
Published in Clinical genetics (01.06.2017)
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Journal Article
A case with de novo interstitial deletion of chromosome 7q21.1-q22
Manguoğlu, E, Berker-Karaüzüm, S, Baumer, A, Mihçi, E, Taçoy, S, Lüleci, G, Schinzel, A
Published in Genetic counseling (2005)
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Published in Genetic counseling (2005)
Journal Article
Prevalence of peripheral arterial disease in high-risk patients using ankle-brachial index in general practice: a cross-sectional study
Cacoub, P., Cambou, J.-P., Kownator, S., Belliard, J.-P., Beregi, J.-P., Branchereau, A., Carpentier, P., Léger, P., Luizy, F., Maïza, D., Mihci, E., Herrmann, M.-A., Priollet, P.
Published in International journal of clinical practice (Esher) (01.01.2009)
Published in International journal of clinical practice (Esher) (01.01.2009)
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Journal Article
MUCOLIPIDOSIS II INFANTS PRESENTING WITH SKELETAL DEFORMITIES MIMICKING RICKETS AND A NEW MUTATION IN GNPTAB GENE
Nur, B G, Erdogan, Y, Curek, Y, Akcakus, M, Oygur, N, Bircan, I, Mihci E
Published in Genetic counseling (01.01.2016)
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Published in Genetic counseling (01.01.2016)
Journal Article
Persistent hyperinsulinaemic hypoglycaemia of infancy: Case report
SEMIZ, S, BIRCAN, I, AKCURIN, S, MIHCI, E, MELIKOGLU, M, KARAGÜZEL, G, KILICASLAN, B, KARPUZOGLU, G
Published in East African medical journal (01.10.2002)
Published in East African medical journal (01.10.2002)
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Journal Article
M-FISH applications in clinical genetics
Cetin, Z, Berker Karaüzüm, S, Yakut, S, Mihçi, E, Baumer, A, Wey, E, Taçoy, S, Bağci, G, Lüleci, G
Published in Genetic counseling (2005)
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Published in Genetic counseling (2005)
Journal Article
Selective IgM deficiency in a boy with ring chromosome 18
Celmeli, F, Turkkahraman, D, Cetin, Z, Mihci, E, Yegin, O
Published in Journal of investigational allergology & clinical immunology (2014)
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Published in Journal of investigational allergology & clinical immunology (2014)
Journal Article
The clinical spectrum of a rare chromosomal abnormality: Isochromosome 18p
Nur, B G, Clark, O A, Cetin, Z, Toylu, A, Karauzum, S B, Mihci, E
Published in Genetic counseling (01.01.2016)
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Published in Genetic counseling (01.01.2016)
Journal Article
Orthostatic heart rate variability analysis in idiopathic Parkinson's disease
Mihci, E., Kardelen, F., Dora, B., Balkan, S.
Published in Acta neurologica Scandinavica (01.05.2006)
Published in Acta neurologica Scandinavica (01.05.2006)
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Journal Article
22q11.2 syndrome due to maternal translocation t(18;22) (pl1.2;q11.2)
Nur, B G, Cetin, Z, Clark, O A, Mihci, E, Oygur, N, Karauzum, S B
Published in Genetic counseling (2015)
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Published in Genetic counseling (2015)
Journal Article
35 Cystic fibrosis transmembrane regulator mutations in Turkish patients with cystic fibrosis
Bingol, A, Ertosun, M.G, Artan, R, Yilmaz, A, Mihci, E, Guzel, B.N, Akar, M. Erman, Mendilcioglu, I, Simsek, M, Demir, D, Pehlivanoglu, S, Yilmaz, E, Alper, O.M
Published in Journal of cystic fibrosis (01.06.2014)
Published in Journal of cystic fibrosis (01.06.2014)
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Journal Article
C.428_451 dup(24bp) mutation of the ARX gene detected in a Turkish family
Arikan, Y, Bilgen, T, Koken, R, Turan, S, Mihci, E, Keser, I
Published in Genetic counseling (01.01.2012)
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Published in Genetic counseling (01.01.2012)
Journal Article
Double partial trisomy of 6p23-pter and 9pter-q21.2 in a neonate resulting from 4:2 meiotic segregation of a maternal complex t(6;7;9)(p23;p15;q21.2) translocation
Cetin, Z, Mihci, E, Keser, I, Karaali, K, Berker, S, Luleci, G
Published in Genetic counseling (01.01.2012)
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Published in Genetic counseling (01.01.2012)
Journal Article
Mosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome
Yakut, S, Mıhcı, E, Altiok, Clark, Cetin, Z, Keser, I, Berker, S, Luleci, G
Published in Balkan journal of medical genetics (01.01.2012)
Published in Balkan journal of medical genetics (01.01.2012)
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Journal Article
Progressive symmetrical erythrokeratoderma: report of a Turkish family and evaluation for loricrin and connexin gene mutations
Akman, A., Masse, M., Mihci, E., Richard, G., Christiano, A. M., Balle, B. J., Ciftcioglu, M. A., Alpsoy, E.
Published in Clinical and experimental dermatology (01.09.2008)
Published in Clinical and experimental dermatology (01.09.2008)
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Journal Article
Molecular analysis of fragile X syndrome in Antalya Province
Bilgen, T, Keser, I, Mihci, E, Haspolat, S, Tacoy, S, Luleci, G
Published in Indian journal of medical sciences (01.04.2005)
Published in Indian journal of medical sciences (01.04.2005)
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