High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Mitani, Tadahiro, Isikay, Sedat, Gezdirici, Alper, Gulec, Elif Yilmaz, Punetha, Jaya, Fatih, Jawid M., Herman, Isabella, Akay, Gulsen, Du, Haowei, Calame, Daniel G., Ayaz, Akif, Tos, Tulay, Yesil, Gozde, Aydin, Hatip, Geckinli, Bilgen, Elcioglu, Nursel, Candan, Sukru, Sezer, Ozlem, Erdem, Haktan Bagis, Gul, Davut, Demiral, Emine, Elmas, Muhsin, Yesilbas, Osman, Kilic, Betul, Gungor, Serdal, Ceylan, Ahmet C., Bozdogan, Sevcan, Ozalp, Ozge, Cicek, Salih, Aslan, Huseyin, Yalcintepe, Sinem, Topcu, Vehap, Bayram, Yavuz, Grochowski, Christopher M., Jolly, Angad, Dawood, Moez, Duan, Ruizhi, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Marafi, Dana, Akdemir, Zeynep Coban, Karaca, Ender, Carvalho, Claudia M.B., Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Pehlivan, Davut
Published in American journal of human genetics (07.10.2021)
Published in American journal of human genetics (07.10.2021)
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Journal Article
The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region
Yalçıntepe, Sinem, Özgüç Çömlek, Fatma, Gürkan, Hakan, Demir, Selma, Atlı, Emine İkbal, Atlı, Engin, Eker, Damla, Tütüncüler Kökenli, Filiz
Published in Journal of clinical research in pediatric endocrinology (01.09.2021)
Published in Journal of clinical research in pediatric endocrinology (01.09.2021)
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Journal Article
Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique
Atlı, Engin, Gürkan, Hakan, Güldiken, Babürhan, Eker, Damla, Yalçıntepe, Sinem, Demir, Selma, Atlı, Emine İkbal
Published in Balkan medical journal (01.01.2023)
Published in Balkan medical journal (01.01.2023)
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Journal Article
Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report
Demir, Selma, Gürkan, Hakan, Öz, Veysel, Yalçıntepe, Sinem, Atlı, Emine İ., Atlı, Engin
Published in Molecular syndromology (01.03.2021)
Published in Molecular syndromology (01.03.2021)
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Journal Article
Two Cases of Cystic Fibrosis with Compound Heterozygous Variants Reported for the First Time
Yalcintepe, Sinem, Gurkan, Hakan, Atli, Engin, Sayin, Niyazi Cenk, Basaran, Umit Nusret
Published in Balkan medical journal (01.09.2020)
Published in Balkan medical journal (01.09.2020)
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Journal Article
Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss
Zhuri, Drenushe, Guler, Hazal Sezginer, Yalcintepe, Sinem, Demir, Selma, Atli, Engin, Atli, Emine Ikbal, Gurkan, Hakan
Published in Journal of International Advanced Otology (01.07.2024)
Published in Journal of International Advanced Otology (01.07.2024)
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Journal Article
Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants
Demir, Selma, Yalçıntepe, Sinem, Atlı, Engin, Yalçın, Yelda, İkbal Atlı, Emine, Eker, Damla, Karal, Yasemin, Gürkan, Hakan
Published in Balkan medical journal (01.11.2021)
Published in Balkan medical journal (01.11.2021)
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Journal Article
Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype
Zhuri, Drenushe, Gurkan, Hakan, Eker, Damla, Karal, Yasemin, Yalcintepe, Sinem, Atli, Engin, Demir, Selma, Atli, Emine Ikbal
Published in Global medical genetics (01.09.2022)
Published in Global medical genetics (01.09.2022)
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Journal Article
EFFECTS OF CHROMOSOMAL TRANSLOCATIONS ON SPERM COUNT IN AZOOSPERMIC AND OLIGOSPERMIC CASES
Ayaz, Akif, Yalcintepe, Sinem, Ozalp, Ozge, Gulec, Elif Yilmaz, Gezdirici, Alper, Akcay, Ebru Perim, Koseoglu, Abdullah Huseyin, Sahin, Yavuz
Published in Journal of Basic and Clinical Health Sciences (01.09.2022)
Published in Journal of Basic and Clinical Health Sciences (01.09.2022)
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Journal Article
Prenatal diagnosis and molecular cytogenetic characterization of partial dup (18p)/del (18q) due to a maternal pericentric inversion 18 in a foetus with multiple anomalies
Atli, Emine Ikbal, Atli, Engin, Inan, Cihan, Varol, Gülizar Fusun, Mail, Cisem, Erbilen, Esra Altan, Yalcintepe, Sinem, Demir, Selma, Gurkan, Hakan
Published in Taiwanese journal of obstetrics & gynecology (01.05.2022)
Published in Taiwanese journal of obstetrics & gynecology (01.05.2022)
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Journal Article
Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method
Eker, Damla, Gurkan, Hakan, Karal, Yasemin, Yalcintepe, Sinem, Demir, Selma, Atli, Engin, Karasalihoglu, Serap T.
Published in Global medical genetics (01.09.2022)
Published in Global medical genetics (01.09.2022)
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Journal Article
Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey
Demir, Selma, Yalçıntepe, Sinem, Atlı, Emine İkbal, Sanrı, Aslıhan, Yıldırım, Ruken, Tütüncüler, Filiz, Çelik, Mehmet, Atlı, Engin, Özemri Sağ, Şebnem, Eker, Damla, Temel, Şehime, Gürkan, Hakan
Published in Genetic testing and molecular biomarkers (01.01.2021)
Published in Genetic testing and molecular biomarkers (01.01.2021)
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Journal Article
The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease
Yalcintepe, Sinem, Gurkan, Hakan, Dogan, Ipek Gungor, Demir, Selma, Sag, Sebnem Ozemri, Kabayegit, Zehra Manav, Atli, Emine Ikbal, Atli, Engin, Eker, Damla, Temel, Sehime Gulsun
Published in Turkish neurosurgery (2021)
Published in Turkish neurosurgery (2021)
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Journal Article
Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic KRAS Variation
Demir, Selma, Yaşar Köstek, Hümeyra, Sanrı, Aslıhan, Yıldırım, Ruken, Özgüç Çömlek, Fatma, Yalçıntepe, Sinem, Deveci, Murat, Atlı, Emine İkbal, Atlı, Engin, Eker, Damla, Gürkan, Hakan, Tütüncüler Kökenli, Filiz
Published in Molecular syndromology (01.02.2022)
Published in Molecular syndromology (01.02.2022)
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Journal Article
Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period
Atli, Emine Ikbal, Atli, Engin, Yalcintepe, Sinem, Demir, Selma, Kalkan, Rasime, Akurut, Cisem, Ozen, Yasemin, Gurkan, Hakan
Published in Global medical genetics (01.03.2022)
Published in Global medical genetics (01.03.2022)
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Journal Article
The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method
Yalcintepe, Sinem, Karal, Yasemin, Demir, Selma, Atli, Emine Ikbal, Atli, Engin, Eker, Damla, Mail, Cisem, Zhuri, Drenushe, Guler, Hazal Sezginer, Gurkan, Hakan
Published in Global medical genetics (01.06.2023)
Published in Global medical genetics (01.06.2023)
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Journal Article