A Baseline Algorithm for Molecular Diagnosis of Genetic Eye Diseases: Ophthalmologist’s Perspective

Por Taylan Şekeroğlu, Hande, Utine, Gülen Eda, Alikaşifoğlu, Mehmet
Publicado no Turk J Ophthalmol (2016)

Genetic Variations in Attention Deficit Hyperactivity Disorder Subtypes and Treatment Resistant Cases

Por Unal, Dilek, Unal, Mehmet Fatih, Alikasifoglu, Mehmet, Cetinkaya, Arda
Publicado no Psychiatry Investig (2016)

Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy

Por Sonmez, Fatma Mujgan, Uctepe, Eyyup, Aktas, Dilek, Alikasifoglu, Mehmet
Publicado no Intractable Rare Dis Res (2017)

A novel missense mutation of the GRK1 gene in Oguchi disease

Por Teke, Mehmet Yasin, Citirik, Mehmet, Kabacam, Serkan, Demircan, Suleyman, Alikasifoglu, Mehmet
Publicado no Mol Med Rep (2016)

Association of LOXL1 gene polymorphisms with exfoliation syndrome/glaucoma and primary open angle glaucoma in a Turkish population

Por Kasım, Burcu, İrkeç, Murat, Alikaşifoğlu, Mehmet, Orhan, Mehmet, Mocan, Mehmet Cem, Aktaş, Dilek
Publicado em 2013

A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome

Por Doğan, Özlem Akgün, Şimşek Kiper, Pelin Özlem, Utine, Gülen Eda, Alikaşifoğlu, Mehmet, Boduroğlu, Koray
Publicado no Korean J Fam Med (2017)

Influence of Reduced Folate Carrier and Aminoimidazole Carboxamide Ribonucleotide Transformylase gene polymorphisms on the efficacy of methotrexate in juvenile idiopathic arthritis

Por Bilginer, Yelda, Utine, Eda, Kasapçopur, Özgür, Gülhan, Bora, Demirkaya, Erkan, Topaloğlu, Rezan, Düzova, Ali, Özaltın, Fatih, Alikaşifoğlu, Mehmet, Özen, Seza
Publicado em 2011

Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

Por Aktas, Dilek, Utine, Eda G, Mrasek, Kristin, Weise, Anja, von Eggeling, Ferdinand, Yalaz, Kalbiye, Posorski, Nicole, Akarsu, Nurten, Alikasifoglu, Mehmet, Liehr, Thomas, Tuncbilek, Ergul
Publicado em 2010

A pilot study for genome wide association study (GWAS) in patients with juvenile idiopathic arthritis (JIA) and their parents

Por Ozen, Seza, Son, Yesim Aydin, Tuncel, Yener, Demirkaya, Erkan, Bilginer, Yelda, Acikel, Cengizhan, Salancı, Bilge Volkan, Kasapcopur, Ozgur, Unsal, Erbil, Besbas, Nesrin, Alikasifoglu, Mehmet
Publicado em 2011

Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

Por Uz, Elif, Alanay, Yasemin, Aktas, Dilek, Vargel, Ibrahim, Gucer, Safak, Tuncbilek, Gokhan, von Eggeling, Ferdinand, Yilmaz, Engin, Deren, Ozgur, Posorski, Nicole, Ozdag, Hilal, Liehr, Thomas, Balci, Sevim, Alikasifoglu, Mehmet, Wollnik, Bernd, Akarsu, Nurten A.
Publicado em 2010

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

Por Alanay, Yasemin, Avaygan, Hrispima, Camacho, Natalia, Utine, G. Eda, Boduroglu, Koray, Aktas, Dilek, Alikasifoglu, Mehmet, Tuncbilek, Ergul, Orhan, Diclehan, Bakar, Filiz Tiker, Zabel, Bernard, Superti-Furga, Andrea, Bruckner-Tuderman, Leena, Curry, Cindy J.R., Pyott, Shawna, Byers, Peter H., Eyre, David R., Baldridge, Dustin, Lee, Brendan, Merrill, Amy E., Davis, Elaine C., Cohn, Daniel H., Akarsu, Nurten, Krakow, Deborah
Publicado em 2010

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

Por Alanay, Yasemin, Avaygan, Hrispima, Camacho, Natalia, Utine, G. Eda, Boduroglu, Koray, Aktas, Dilek, Alikasifoglu, Mehmet, Tuncbilek, Ergul, Orhan, Diclehan, Bakar, Filiz Tiker, Zabel, Bernard, Superti-Furga, Andrea, Bruckner-Tuderman, Leena, Curry, Cindy J.R., Pyott, Shawna, Byers, Peter H., Eyre, David R., Baldridge, Dustin, Lee, Brendan, Merrill, Amy E., Davis, Elaine C., Cohn, Daniel H., Akarsu, Nurten, Krakow, Deborah
Publicado em 2010

Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease

Por Karaca, Ender, Harel, Tamar, Pehlivan, Davut, Jhangiani, Shalini N., Gambin, Tomasz, Akdemir, Zeynep Coban, Gonzaga-Jauregui, Claudia, Erdin, Serkan, Bayram, Yavuz, Campbell, Ian M., Hunter, Jill V., Atik, Mehmed M., Van Esch, Hilde, Yuan, Bo, Wiszniewski, Wojciech, Isikay, Sedat, Yesil, Gozde, Yuregir, Ozge O., Bozdogan, Sevcan Tug, Aslan, Huseyin, Aydin, Hatip, Tos, Tulay, Aksoy, Ayse, De Vivo, Darryl C., Jain, Preti, Geckinli, B. Bilge, Sezer, Ozlem, Gul, Davut, Durmaz, Burak, Cogulu, Ozgur, Ozkinay, Ferda, Topcu, Vehap, Candan, Sukru, Cebi, Alper Han, Ikbal, Mevlit, Gulec, Elif Yilmaz, Gezdirici, Alper, Koparir, Erkan, Ekici, Fatma, Coskun, Salih, Cicek, Salih, Karaer, Kadri, Koparir, Asuman, Duz, Mehmet Bugrahan, Kirat, Emre, Fenercioglu, Elif, Ulucan, Hakan, Seven, Mehmet, Guran, Tulay, Elcioglu, Nursel, Yildirim, Mahmut Selman, Aktas, Dilek, Alikaşifoğlu, Mehmet, Ture, Mehmet, Yakut, Tahsin, Overton, John D., Yuksel, Adnan, Ozen, Mustafa, Muzny, Donna M., Adams, David R., Boerwinkle, Eric, Chung, Wendy K., Gibbs, Richard A., Lupski, James R
Publicado no Neuron (2015)