Mutation spectrum of the NF1 gene and genotype–phenotype correlations in Turkish patients: Seventeen novel pathogenic variants von Ece Solmaz, Asli, Isik, Esra, Atik, Tahir, Ozkinay, Ferda, Onay, Huseyin

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A novel bi-allelic variant in the SDHB gene causes a severe mitochondrial complex II deficiency: a case report von Ece Solmaz, Asli, Pariltay, Erhan, Talim, Beril, Onay, Huseyin

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Clinical and molecular aspects of PTEN mutations in 10 pediatric patients von Isik, Esra, Simsir, Ozguc Semih, Solmaz, Asli Ece, Onay, Huseyin, Atik, Tahir, Aykut, Ayca, Durmaz, Asude, Cogulu, Ozgur, Ozkinay, Ferda

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Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes von Ece Solmaz, Asli, Onay, Huseyin, Atik, Tahir, Aykut, Ayca, Cerrah Gunes, Meltem, Ozalp Yuregir, Ozge, Bas, Veysel Nijat, Hazan, Filiz, Kirbiyik, Ozgur, Ozkinay, Ferda

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A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia von Isik, Esra, Onay, Huseyin, Atik, Tahir, Solmaz, Asli Ece, Ozen, Samim, Cogulu, Ozgur, Darcan, Sukran, Ozkinay, Ferda

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A rare cause of primary amenorrhea: LHCGR gene mutations von Aktar Karakaya, Amine, Çayır, Atilla, Unal, Edip, Beştaş, Aslı, Ece Solmaz, Aslı, Kenan Haspolat, Yusuf

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Clinical Contribution of Next-Generation Sequencing Multigene Panel Testing for BRCA Negative High-Risk Patients With Breast Cancer von Ece Solmaz, Aslı, Yeniay, Levent, Gökmen, Erhan, Zekioğlu, Osman, Haydaroğlu, Ayfer, Bilgen, Işıl, Özkınay, Ferda, Onay, Hüseyin

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Von Hippel-Lindau Disease: The Importance of Retinal Hemangioblastomas in Diagnosis von Şahin Atik, Sevinç, Solmaz, Aslı Ece, Öztaş, Zafer, Eğrilmez, Emine Deniz, Uğurlu, Şeyda, Atik, Tahir, Afrashi, Filiz

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Investigating the effects of PTEN mutations on cGAS-STING pathway in glioblastoma tumours von Dogan, Eda, Yildirim, Zafer, Akalin, Taner, Ozgiray, Erkin, Akinturk, Nevhis, Aktan, Cagdas, Solmaz, Asli Ece, Biceroglu, Huseyin, Caliskan, Kadri Emre, Ertan, Yesim, Yurtseven, Taskin, Kosova, Buket, Bozok, Vildan

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The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients von Nguyen, Ngoc Minh Phuong, Khawajkie, Yassemine, Mechtouf, Nawel, Rezaei, Maryam, Breguet, Magali, Kurvinen, Elvira, Jagadeesh, Sujatha, Solmaz, Asli Ece, Aguinaga, Monica, Hemida, Reda, Harma, Mehmet Ibrahim, Rittore, Cécile, Rahimi, Kurosh, Arseneau, Jocelyne, Hovanes, Karine, Clisham, Ronald, Lenzi, Tiffanee, Scurry, Bonnie, Addor, Marie-Claude, Bagga, Rashmi, Nendaz, Genevieve Girardet, Finci, Vildana, Poke, Gemma, Grimes, Leslie, Gregersen, Nerine, York, Kayla, Bolze, Pierre-Adrien, Patel, Chirag, Mozdarani, Hossein, Puechberty, Jacques, Scotchie, Jessica, Fardaei, Majid, Harma, Muge, Gardner, R. J. McKinlay, Sahoo, Trilochan, Dudding-Byth, Tracy, Srinivasan, Radhika, Sauthier, Philippe, Slim, Rima

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Prevalence of lipoprotein lipase mutation in patients with severe hypertriglyceridemia and the characteristic features of hypertriglyceridemic pancreatitis von SOYALTIN, Utku Erdem, KANDEMIR BOZKURT, Ayşe Bengu, SOLMAZ, Asli Ece, HAKVERDI, Gulden, YILDIRIM SIMSIR, Ilgin

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Clinical and Molecular Spectrum of Tuberous Sclerosis Complex Patients: Identification of Three Novel Mutations von Işık, Esra, Onay, Hüseyin, Atık, Tahir, Aslı Ece Solmaz, Terek, Demet, Gökben, Sarenur, Tekgül, Hasan, Ertürk Levent, Kantar, Mehmet, Kültürsay, Nilgün, Çoğulu, Özgür, Özkınay, Ferda

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A Novel HESX1 Mutation in a Case with Panhypopituitarism von Solmaz, Asli Ece, Aykut, Ayca, Durmaz, Asude

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20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey von Durmaz, Burak, Bolat, Hilmi, Cengisiz, Zehra, Akercan, Fuat, Sozen Turk, Tuba, Pariltay, Erhan, Solmaz, Asli Ece, Kazandi, Mert, Karaca, Emin, Durmaz, Asude, Aykut, Ayca, Sagol, Sermet, Akin, Haluk, Ozkinay, Ferda, Cogulu, Ozgur

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Molecular spectrum of [alpha]-globin gene mutations in the Aegean region of Turkey: first observation of three [alpha]-globin gene mutations in the Turkish population von Onay, Hüseyin, Aykut, Ayça, Karaca, Emin, Durmaz, Asude, Solmaz, Asli Ece, Çoulu, Özgür, Aydinok, Yesim, Vergin, Canan, Özkinay, Ferda

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Gorlin Sendromlu olgularda saptanan üç yeni PTCH1 varyantı von SOLMAZ, Aslı Ece, ONAY, Hüseyin

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FGFR2 Gene Mutations in Patients with Syndromic or Isolated Craniosynostosis von Ceylan, Emine Ipek, Solmaz, Asli Ece, Onay, Huseyin, Aykut, Ayca, Durmaz, Asude, Yesil, Gozde, Hazan, Filiz, Kiraz, Aslihan, Tuysuz, Beyhan, Gunes, Meltem Cerrah

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Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment von Özen, Samim, Onay, Hüseyin, Atik, Tahir, Solmaz, Aslı Ece, Özkınay, Ferda, Gökşen, Damla, Darcan, Şükran

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Phenotype-Genotype Correlations in Bardet-Biedl Syndrome Patients with Molecular Analysis von Solmaz, Asli Ece, Onay, Hüseyin, Atik, Tahir, Aykut, Ayça, Günes, Meltem Cerrah, Yüregir, Özge Özalp, Bas, Veysel Nijat, Hazan, Filiz, Kirbiyik, Özgür, Özkinay, Ferda

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A Novel HESX1 Mutation in a Case with Panhypopituitarism von Aslı Ece Solmaz, Aykut, Ayça, Durmaz, Asude

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