More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
Dhooge, Tibbe, Van Damme, Tim, Syx, Delfien, Mosquera, Laura M., Nampoothiri, Sheela, Radhakrishnan, Anil, Simsek‐Kiper, Pelin O., Utine, Gülen E., Bonduelle, Maryse, Migeotte, Isabelle, Essawi, Osama, Ceylaner, Serdar, Al Kindy, Adila, Tinkle, Brad, Symoens, Sofie, Malfait, Fransiska
Published in Human mutation (01.06.2021)
Published in Human mutation (01.06.2021)
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Journal Article
Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome
Ünal Yüksekgönül, Ayşe, Azak, Emine, Akalın, Akçahan, Ertuğrul, İlker, Kılıç, Esra, Utine, Gülen E., Karagöz, Tevfik
Published in European journal of medical genetics (01.06.2022)
Published in European journal of medical genetics (01.06.2022)
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Journal Article
ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair: The co‐occurrence of two rare syndromes
Akgun‐Dogan, Ozlem, Simsek‐Kiper, Pelin O., Taskiran, Ekim, Lissewski, Christina, Brinkmann, Julia, Schanze, Denny, Göçmen, Rahşan, Cagdas, Deniz, Bilginer, Yelda, Utine, Gülen E., Zenker, Martin, Ozen, Seza, Tezcan, İlhan, Alikasifoglu, Mehmet, Boduroğlu, Koray
Published in American journal of medical genetics. Part A (01.12.2019)
Published in American journal of medical genetics. Part A (01.12.2019)
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Journal Article
Café noir spots: a feature of familial progressive hyper‐ and hypopigmentation
Gülseren, D., Güleray, N., Akgün‐Doğan, Ö., Şimşek‐Kiper, P.Ö., Utine, E.G., Alikaşifoğlu, M., Ersoy‐Evans, S.
Published in Journal of the European Academy of Dermatology and Venereology (01.02.2020)
Published in Journal of the European Academy of Dermatology and Venereology (01.02.2020)
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Journal Article
Arthrogryposis multiplex congenita (AMC): Spectrum and classification at a tertiary referral center
Oncel, I, Haliloglu, G, Utine, E, Aksoy, C, Boduroglu, K, Topaloglu, H
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents
Çelik, T, Simsek, PO, Sozen, T, Ozyuncu, O, Utine, GE, Talim, B, Yiğit, Ş, Boduroglu, K, Kamnasaran, D
Published in Clinical genetics (01.03.2012)
Published in Clinical genetics (01.03.2012)
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Journal Article
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
Van Damme, Tim, Gardeitchik, Thatjana, Mohamed, Miski, Guerrero-Castillo, Sergio, Freisinger, Peter, Guillemyn, Brecht, Kariminejad, Ariana, Dalloyaux, Daisy, van Kraaij, Sanne, Lefeber, Dirk J., Syx, Delfien, Steyaert, Wouter, De Rycke, Riet, Hoischen, Alexander, Kamsteeg, Erik-Jan, Wong, Sunnie Y., van Scherpenzeel, Monique, Jamali, Payman, Brandt, Ulrich, Nijtmans, Leo, Korenke, G. Christoph, Chung, Brian H.Y., Mak, Christopher C.Y., Hausser, Ingrid, Kornak, Uwe, Fischer-Zirnsak, Björn, Strom, Tim M., Meitinger, Thomas, Alanay, Yasemin, Utine, Gulen E., Leung, Peter K.C., Ghaderi-Sohi, Siavash, Coucke, Paul, Symoens, Sofie, De Paepe, Anne, Thiel, Christian, Haack, Tobias B., Malfait, Fransiska, Morava, Eva, Callewaert, Bert, Wevers, Ron A.
Published in American journal of human genetics (02.02.2017)
Published in American journal of human genetics (02.02.2017)
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Journal Article
Clinical and molecular analysis of RASopathies in a group of Turkish patients
Şimşek-Kiper, PÖ, Alanay, Y, Gülhan, B, Lissewski, C, Türkyılmaz, D, Alehan, D, Çetin, M, Utine, GE, Zenker, M, Boduroğlu, K
Published in Clinical genetics (01.02.2013)
Published in Clinical genetics (01.02.2013)
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Journal Article
Congenital multisegmental lymphatic dysplasia with systemic involvement: a case report
Kaymak, Suna, Kuloğlu, Zarife, Çobanoğlu, Nazan, Utine, Gülen E, Kansu, Aydan
Published in Clinical dysmorphology (01.10.2016)
Published in Clinical dysmorphology (01.10.2016)
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Journal Article
Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism
Robberecht, Caroline, Voet, Thierry, Utine, Gülen E, Schinzel, Albert, de Leeuw, Nicole, Fryns, Jean-Pierre, Vermeesch, Joris
Published in Molecular cytogenetics (10.04.2012)
Published in Molecular cytogenetics (10.04.2012)
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Journal Article
G.P.24
Batu, E, Pehlivanturk, M, Haliloglu, G, Utine, E, Tekerek, N. Ulgen, Eroglu, F. Kara, Ertugrul, I, Hizal, G, Boduroglu, K, Topaloglu, H, Coskun, T, Ozen, H, Kale, G, Alehan, D
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
Partial monosomy 3q26.33-3q27.3 presenting with intellectual disability, facial dysmorphism, and diaphragm eventration: a case report
Şahin, Yavuz, Kiper, Pelin Ö, Alanay, Yasemin, Liehr, Thomas, Utine, Gülen E, Boduroğlu, Koray
Published in Clinical dysmorphology (01.10.2014)
Published in Clinical dysmorphology (01.10.2014)
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Journal Article
Diagnostic yield of microarrays in individuals with non‐syndromic developmental delay and intellectual disability
Oğuz, S., Arslan, U. E., Kiper, P. Ö. Ş., Alikaşifoğlu, M., Boduroğlu, K., Utine, G. E.
Published in Journal of intellectual disability research (01.12.2021)
Published in Journal of intellectual disability research (01.12.2021)
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Journal Article
PARENTAL FACTORS IN PRENATAL DECISION MAKING AND THE IMPACT OF PRENATAL GENETIC COUNSELING: A STUDY ON TURKISH FAMILIES
SIMSEK-KIPER, P. Ö, UTINE, G. E, VOLKAN-SALANCI, B, ALANAY, Y, AKTAS, D, ALIKASIFOGLU, M, BODUROGLU, K, TUNCBILEK, E
Published in Genetic counseling (2014)
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Published in Genetic counseling (2014)
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Diagnostic yield of whole‐exome sequencing in non‐syndromic intellectual disability
Taşkıran, E. Z., Karaosmanoğlu, B., Koşukcu, C., Ürel‐Demir, G., Akgün‐Doğan, Ö., Şimşek‐Kiper, P. Ö., Alikaşifoğlu, M., Boduroğlu, K., Utine, G. E.
Published in Journal of intellectual disability research (01.06.2021)
Published in Journal of intellectual disability research (01.06.2021)
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Journal Article
A multidisciplinary approach to the management of individuals with fragile X syndrome
Alanay, Y., Ünal, F., Turanlı, G., Alikaşifoğlu, M., Alehan, D., Akyol, U., Belgin, E., Şener, C., Aktaş, D., Boduroğlu, K., Utine, E., Volkan-Salancı, B., Özusta, Ş., Genç, A., Başar, F., Sevinç, Ş., Tunçbilek, E.
Published in Journal of intellectual disability research (01.02.2007)
Published in Journal of intellectual disability research (01.02.2007)
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Journal Article
Relationship between the Common Variants of the ADAM19, FAM13A, and IREB2 Genes and COPD Susceptibility and Severity
Senel, Merve Y, Kabacam, Serkan, Kasikci, Merve, Onder, Banu S, Kiper, Pelin OS, Utine, Gulen E, Alikasifoglu, Mehmet
Published in Indian journal of respiratory care (18.06.2024)
Published in Indian journal of respiratory care (18.06.2024)
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