المؤلفون: Dundar M; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey. dundar@erciyes.edu.tr., Fahrioglu U; Department of Medical Biology, Faculty of Medicine, Near East University, 99138, Nicosia, Cyprus. umutfahrioglu@gmail.com.; DESAM Institute, Near East University, 99138, Nicosia, Cyprus. umutfahrioglu@gmail.com.; Genetics and Cancer Diagnosis-Research Centre, Centre of Excellence, Near East University, 99138, Nicosia, Cyprus. umutfahrioglu@gmail.com., Yildiz SH; Department of Medical Genetics, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, 03030, Turkey., Bakir-Gungor B; Department of Computer Engineering, Faculty of Engineering and Natural Sciences, Abdullah Gul University, Kayseri, 38080, Turkey., Temel SG; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Gorukle, Bursa, 16059, Turkey.; Department of Histology and Embryology, Faculty of Medicine, Bursa Uludag University, Gorukle, Bursa, 16059, Turkey.; Department of Translational Medicine, Health Sciences Institute, Bursa Uludag University, Gorukle, Bursa, 16059, Turkey., Akin H; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, 35100, Turkey., Artan S; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Cora T; Department of Medical Biology and Genetics, Faculty of Medicine, Selcuk University, Konya, 42131, Turkey., Sahin FI; Department of Medical Genetics, Faculty of Medicine, Baskent University, Ankara, 06490, Turkey., Dursun A; Department of Medical Genetics, Faculty of Medicine, Zonguldak Bulent Ecevit University, Zonguldak, 67600, Turkey., Sezer O; Department of Medical Genetics, Samsun Education and Research Hospital, Samsun, 55090, Turkey., Gurkan H; Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, 22130, Turkey., Erdogan M; Division of Medical Genetics, Kayseri City Education and Research Hospital, Kayseri, 38080, Turkey., Gunduz CNS; Department of Medical Genetics, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, 06800, Turkey.; Ataturk Training and Research Hospital, Genetic Diseases Diagnosis Center, Ankara, 06230, Turkey., Bisgin A; Department of Medical Genetics, Faculty of Medicine, Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center and Medical Genetics), Adana, 01790, Turkey., Ozdemir O; Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, 17100, Turkey., Ulgenalp A; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey.; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Percin EF; Department of Medical Genetics, Faculty of Medicine, Gazi University, Besevler Ankara, 06560, Turkey., Yildirim ME; Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, Sivas, 58140, Turkey., Tekes S; Department of Medical Genetics, Faculty of Medicine, Dicle University, Diyarbakir, 21280, Turkey., Bagis H; Department of Medical Genetics, Faculty of Medicine, Adiyaman University, Adiyaman, 02040, Turkey., Yuce H; Department of Medical Genetics, Faculty of Medicine, Duzce University, Duzce, 81620, Turkey., Duman N; Department of Medical Genetics, Faculty of Medicine, Dragos Hospital, Bezmi Alem Vakif University, Istanbul, 34844, Turkey., Bozkurt G; Department of Medical Genetics, Faculty of Medicine, Aydin Adnan Menderes University, Aydin, 09010, Turkey., Yararbas K; Acibadem Labgen Genetic Diagnosis Center, Acibadem University, Istanbul, 34755, Turkey., Yildirim MS; Department of Medical Genetics, Meram Medical Faculty, Necmettin Erbakan University, Konya, 42080, Turkey., Arman A; Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, 34854, Turkey., Mihci E; Department of Medical Genetics, Faculty of Medicine, Akdeniz University, Antalya, 07070, Turkey.; Department of Pediatric Genetics, Faculty of Medicine, Akdeniz University, Antalya, 07070, Turkey., Eraslan S; Diagnostic Center for Genetic Diseases, Koc University Hospital, Koc University, Istanbul, 34010, Turkey., Altintas ZM; Department of Medical Genetics, Faculty of Medicine, Mersin University, Mersin, 33343, Turkey., Aymelek HS; Department of Medical Genetics, Faculty of Medicine, Van Yuzuncu Yil University, Van, 65080, Turkey.; Division of Medical Genetics, Bursa City Hospital, Bursa, 16110, Turkey., Ruhi HI; Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, 06590, Turkey., Tatar A; Department of Medical Genetics, Faculty of Medicine, Ataturk University, Erzurum, 25240, Turkey., Ergoren MC; DESAM Institute, Near East University, 99138, Nicosia, Cyprus.; Department of Medical Genetics, Faculty of Medicine, Near East University, 99138, Nicosia, Cyprus., Cetin GO; Department of Medical Genetics, Faculty of Medicine, Pamukkale University, Denizli, 20070, Turkey., Altunoglu U; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, 34093, Turkey.; Department of Medical Genetics, Faculty of Medicine (KUSOM), Koc University, Istanbul, 34010, Turkey., Caglayan AO; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey.; Department of Medical Genetics, Faculty of Medicine, Istanbul Bilim University, Istanbul, 34394, Turkey., Yuksel B; Department of Medical Genetics, Faculty of Medicine, Usak University, Usak, 64050, Turkey., Ozkul Y; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Saatci C; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Kenanoglu S; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Karasu N; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Dundar B; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Pathology, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Ozcelik F; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Demir M; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Medical Genetics, Faculty of Medicine, Van Yuzuncu Yil University, Van, 65080, Turkey., Siniksaran BS; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Kulak H; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Medical Genetics, Faculty of Medicine, Van Yuzuncu Yil University, Van, 65080, Turkey., Kiranatlioglu K; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Baysal K; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Kazimli U; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Akalin H; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Dundar A; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Radiology, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Boz M; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Bayram A; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Medical Genetics, Etlik Zubeyde Hanim Women's Diseases Education and Research Hospital, Ankara, 06050, Turkey., Subasioglu A; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Medical Genetics, Faculty of Medicine, Izmir Katip Celebi University, Izmir, 35620, Turkey., Colak FK; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Medical Genetics, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, 46040, Turkey., Karaduman N; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Division of Medical Genetics, Kirikkale High Specialization Hospital, Kirikkale, 71300, Turkey., Gunes MC; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Medical Genetics, Faculty of Medicine, Kocaeli University, Kocaeli, 41001, Turkey., Kandemir N; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Medical Genetics, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, 06110, Turkey., Aynekin B; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Emekli R; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Sahin IO; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Ozdemir SY; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Medical Genetics, Faculty of Medicine, Uskudar University, Istanbul, 34662, Turkey., Onal MG; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Senel AS; Department of Rheumatology, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Poyrazoglu MH; Department of Pediatrics, Division of Nephrology, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Kisaarslan ANP; Department of Child Health and Diseases, Division of Pediatric Rheumatology, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Gursoy S; Department of Gastroenterology, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Baskol M; Department of Gastroenterology, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Calis M; Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Demir H; Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Zararsiz GE; Department of Biostatistics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey., Erdogan MO; Department of Medical Genetics, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, 03030, Turkey., Elmas M; Department of Medical Genetics, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, 03030, Turkey., Solak M; Department of Medical Genetics, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, 03030, Turkey., Ulu MS; Department of Internal Medicine, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyonkarahisar, 03030, Turkey., Thahir A; Department of Computer Engineering, Faculty of Engineering and Natural Sciences, Abdullah Gul University, Kayseri, 38080, Turkey., Aydin Z; Department of Computer Engineering, Faculty of Engineering and Natural Sciences, Abdullah Gul University, Kayseri, 38080, Turkey., Atasever U; Department of Computer Engineering, Faculty of Engineering and Natural Sciences, Abdullah Gul University, Kayseri, 38080, Turkey., Sag SO; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Gorukle, Bursa, 16059, Turkey., Aliyeva L; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Gorukle, Bursa, 16059, Turkey., Alemdar A; Department of Translational Medicine, Health Sciences Institute, Bursa Uludag University, Gorukle, Bursa, 16059, Turkey., Dogan B; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Gorukle, Bursa, 16059, Turkey.; Department of Translational Medicine, Health Sciences Institute, Bursa Uludag University, Gorukle, Bursa, 16059, Turkey., Erguzeloglu CO; Department of Translational Medicine, Health Sciences Institute, Bursa Uludag University, Gorukle, Bursa, 16059, Turkey., Kaya N; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Gorukle, Bursa, 16059, Turkey., Ozkinay F; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, 35100, Turkey.; Department of Pediatrics and Health, Genetics and Teratology, Faculty of Medicine, Ege University, Izmir, 35100, Turkey., Cogulu O; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, 35100, Turkey.; Department of Pediatrics and Health, Genetics and Teratology, Faculty of Medicine, Ege University, Izmir, 35100, Turkey., Durmaz A; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, 35100, Turkey., Onay H; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, 35100, Turkey., Karaca E; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, 35100, Turkey., Durmaz B; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, 35100, Turkey., Aykut A; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, 35100, Turkey., Cilingir O; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Aras BD; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Gokalp EE; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Arslan S; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Temena A; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Haziyeva K; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Kocagil S; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Bas H; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Susam E; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Keklikci AR; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Sarac E; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, 26040, Turkey., Kocak N; Department of Medical Biology and Genetics, Faculty of Medicine, Selcuk University, Konya, 42131, Turkey., Nergiz S; Department of Medical Biology and Genetics, Faculty of Medicine, Selcuk University, Konya, 42131, Turkey., Terzi YK; Department of Medical Genetics, Faculty of Medicine, Baskent University, Ankara, 06490, Turkey., Dincer SA; Department of Medical Genetics, Faculty of Medicine, Baskent University, Ankara, 06490, Turkey., Baskin ES; Department of Pediatric Nephrology, Faculty of Medicine, Baskent University, Ankara, 06490, Turkey., Genc GC; Department of Medical Genetics, Faculty of Medicine, Zonguldak Bulent Ecevit University, Zonguldak, 67600, Turkey., Bahadir O; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.; Department of Medical Genetics, Samsun Education and Research Hospital, Samsun, 55090, Turkey., Sanri A; Department of Medical Genetics, Samsun Education and Research Hospital, Samsun, 55090, Turkey., Yigit S; Department of Genetics, Faculty of Veterinary, Ondokuz Mayis University, Samsun, 55270, Turkey.; Department of Medical Biology, Faculty of Medicine, Gaziosmanpasa University, Tokat, 60030, Turkey., Tozkir H; Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, 22130, Turkey., Yalcintepe S; Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, 22130, Turkey., Ozkayin N; Department of Pediatrics, Division of Nephrology, Faculty of Medicine, Trakya University, Edirne, 22130, Turkey., Kiraz A; Division of Medical Genetics, Kayseri City Education and Research Hospital, Kayseri, 38080, Turkey., Balta B; Division of Medical Genetics, Kayseri City Education and Research Hospital, Kayseri, 38080, Turkey., Gonen GA; Division of Medical Genetics, Kayseri City Education and Research Hospital, Kayseri, 38080, Turkey., Kurt EE; Department of Medical Genetics, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, 06800, Turkey.; Ataturk Training and Research Hospital, Genetic Diseases Diagnosis Center, Ankara, 06230, Turkey., Ceylan GG; Department of Medical Genetics, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, 06800, Turkey.; Ataturk Training and Research Hospital, Genetic Diseases Diagnosis Center, Ankara, 06230, Turkey., Ceylan AC; Department of Medical Genetics, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, 06800, Turkey.; Ataturk Training and Research Hospital, Genetic Diseases Diagnosis Center, Ankara, 06230, Turkey., Erten S; Department of Rheumatology, Ataturk Training Research Hospital, Ankara Yildirim Beyazit University, Ankara, 06230, Turkey., Bozdogan ST; Department of Medical Genetics, Faculty of Medicine, Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center and Medical Genetics), Adana, 01790, Turkey., Boga I; Department of Medical Genetics, Faculty of Medicine, Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center and Medical Genetics), Adana, 01790, Turkey., Yilmaz M; Division of Pediatric Rheumatology, Faculty of Medicine, Cukurova University, Adana, 01790, Turkey., Silan F; Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, 17100, Turkey., Kocabey M; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Koc A; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Cankaya T; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Bora E; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Bozkaya OG; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey.; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Ercal D; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey.; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Ergun MA; Department of Medical Genetics, Faculty of Medicine, Gazi University, Besevler Ankara, 06560, Turkey., Ergun SG; Department of Medical Genetics, Faculty of Medicine, Gazi University, Besevler Ankara, 06560, Turkey.; Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara, 06100, Turkey., Duman YS; Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, Sivas, 58140, Turkey., Beyazit SB; Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, Sivas, 58140, Turkey., Uzel VH; Department of Pediatric Hematology, Faculty of Medicine, Dicle University, Diyarbakir, 21280, Turkey., Em S; Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Dicle University, Diyarbakir, 21280, Turkey., Cevik MO; Department of Medical Genetics, Faculty of Medicine, Adiyaman University, Adiyaman, 02040, Turkey., Eroz R; Department of Medical Genetics, Faculty of Medicine, Duzce University, Duzce, 81620, Turkey., Demirtas M; Department of Medical Genetics, Faculty of Medicine, Dragos Hospital, Bezmi Alem Vakif University, Istanbul, 34844, Turkey., Firat CK; Department of Child Health and Diseases, Faculty of Medicine, Dragos Hospital, Bezmi Alem Vakif University, Istanbul, 34844, Turkey., Kabayegit ZM; Department of Medical Genetics, Faculty of Medicine, Aydin Adnan Menderes University, Aydin, 09010, Turkey., Altan M; Department of Medical Genetics, Faculty of Medicine, Aydin Adnan Menderes University, Aydin, 09010, Turkey., Mardan L; Department of Medical Genetics, Faculty of Medicine, Aydin Adnan Menderes University, Aydin, 09010, Turkey., Sayar C; Acibadem Labgen Genetic Diagnosis Center, Acibadem University, Istanbul, 34755, Turkey., Tumer S; Acibadem Labgen Genetic Diagnosis Center, Acibadem University, Istanbul, 34755, Turkey., Turkgenc B; Acibadem Labgen Genetic Diagnosis Center, Acibadem University, Istanbul, 34755, Turkey., Karakoyun HK; Acibadem Labgen Genetic Diagnosis Center, Acibadem University, Istanbul, 34755, Turkey., Tunc B; Acibadem Labgen Genetic Diagnosis Center, Acibadem University, Istanbul, 34755, Turkey., Kuru S; Acibadem Labgen Genetic Diagnosis Center, Acibadem University, Istanbul, 34755, Turkey., Zamani A; Department of Medical Genetics, Meram Medical Faculty, Necmettin Erbakan University, Konya, 42080, Turkey., Geckinli BB; Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, 34854, Turkey., Ates EA; Department of Medical Genetics, Marmara Teaching and Research Hospital, Marmara University, Istanbul, 34899, Turkey., Clark OA; Department of Medical Genetics, Faculty of Medicine, Akdeniz University, Antalya, 07070, Turkey., Toylu A; Department of Medical Genetics, Faculty of Medicine, Akdeniz University, Antalya, 07070, Turkey., Coskun M; Department of Medical Genetics, Faculty of Medicine, Akdeniz University, Antalya, 07070, Turkey., Nur B; Department of Pediatric Genetics, Faculty of Medicine, Akdeniz University, Antalya, 07070, Turkey., Bilge I; Department of Pediatric Nephrology, Koc University Hospital, Istanbul, 34010, Turkey., Bayramicli OU; Department of Gastroenterology and Hepatology, Med American Ambulatory Care Center, Istanbul, 34724, Turkey., Emmungil H; Department of Rheumatology, Faculty of Medicine, Trakya University, Edirne, 22100, Turkey., Komesli Z; Department of Internal Medicine, Koc University Hospital, Istanbul, 34010, Turkey., Zeybel M; Department of Gastroenterology and Hepatology, Faculty of Medicine, Koc University, Istanbul, 34010, Turkey., Gurakan F; Department of Pediatrics, VKV American Hospital, Istanbul, 34365, Turkey., Tasdemir M; Division of Pediatric Nephrology, Department of Pediatrics, Faculty of Medicine, Koc University, Istanbul, 34010, Turkey., Kebudi R; Department of Pediatric Hematology-Oncology, Institute of Oncology, Istanbul University, Istanbul, 34093, Turkey., Karabulut HG; Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, 06590, Turkey., Tuncali T; Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, 06590, Turkey., Kutlay NY; Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, 06590, Turkey., Kahraman CY; Department of Medical Genetics, Faculty of Medicine, Ataturk University, Erzurum, 25240, Turkey., Onder NB; Department of Pediatrics, Faculty of Medicine, Near East University, 99138, Nicosia, Cyprus., Beyitler I; Department of Pediatrics, Faculty of Medicine, Near East University, 99138, Nicosia, Cyprus., Kavukcu S; Department of Pediatric Nephrology, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Tulay P; DESAM Institute, Near East University, 99138, Nicosia, Cyprus.; Department of Medical Genetics, Faculty of Medicine, Near East University, 99138, Nicosia, Cyprus., Tosun O; Department of Biostatistics, Faculty of Medicine, Near East University, 99138, Nicosia, Cyprus., Tuncel G; DESAM Institute, Near East University, 99138, Nicosia, Cyprus., Mocan G; Department of Pathology, Faculty of Medicine, Near East University, 99138, Nicosia, Cyprus., Kale H; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, 34093, Turkey., Uyguner ZO; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, 34093, Turkey., Acar A; Department of Molecular Biology and Genetics, Faculty of Arts and Sciences, Demiroglu Bilim University, Sisli, Istanbul, 34394, Turkey., Altinay M; Department of Molecular Biology and Genetics, Faculty of Arts and Sciences, Demiroglu Bilim University, Sisli, Istanbul, 34394, Turkey., Erdem L; Department of Internal Medicine, Faculty of Medicine, Demiroglu Bilim University, Sisli, Istanbul, 34394, Turkey.

مؤلفون مشاركون: National Genetics Consortium Study

المصدر: Functional & integrative genomics [Funct Integr Genomics] 2022 Jun; Vol. 22 (3), pp. 291-315. Date of Electronic Publication: 2022 Jan 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Germany NLM ID: 100939343 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1438-7948 (Electronic) Linking ISSN: 1438793X NLM ISO Abbreviation: Funct Integr Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Familial Mediterranean Fever*/epidemiology , Familial Mediterranean Fever*/genetics , Pyrin*/genetics, Genetics, Population ; Genotype ; Humans ; Mutation ; Phenotype ; Turkey/epidemiology

المؤلفون: Bas H; Faculty of Medicine, Department of Medical Genetics, Eskisehir Osmangazi University, Eskişehir, Turkey., Saylisoy S; Faculty of Medicine, Department of Radiology, Eskisehir Osmangazi University, Eskişehir, Turkey., Cilingir O; Faculty of Medicine, Department of Medical Genetics, Eskisehir Osmangazi University, Eskişehir, Turkey., Gokalp EE; Faculty of Medicine, Department of Medical Genetics, Eskisehir Osmangazi University, Eskişehir, Turkey., Kocagil S; Faculty of Medicine, Department of Medical Genetics, Eskisehir Osmangazi University, Eskişehir, Turkey., Yarar C; Faculty of Medicine, Department of Pediatric Neurology, Eskisehir Osmangazi University, Eskişehir, Turkey., Aras BD; Faculty of Medicine, Department of Medical Genetics, Eskisehir Osmangazi University, Eskişehir, Turkey., Artan S; Faculty of Medicine, Department of Medical Genetics, Eskisehir Osmangazi University, Eskişehir, Turkey.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jan; Vol. 188 (1), pp. 326-331. Date of Electronic Publication: 2021 Sep 25.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Hydranencephaly*/diagnosis , Hydranencephaly*/genetics , Lissencephaly*/diagnosis , Lissencephaly*/genetics , Microcephaly*/diagnosis , Microcephaly*/genetics, Humans ; Male ; Microtubule-Associated Proteins/genetics

SCR Disease Name: Microhydranencephaly

المؤلفون: Gunden G; Department of Medical Genetics, Faculty of Medicine, University of Eskisehir Osmangazi, Eskisehir, Turkey. Electronic address: gulcin.gunden@ogu.edu.tr., Isik S; Department of Medical Genetics, Faculty of Medicine, University of Eskisehir Osmangazi, Eskisehir, Turkey. Electronic address: sisik@ogu.edu.tr., Ozdemir C; Department of Pediatric Hematology, Faculty of Medicine, University of Eskisehir Osmangazi, Eskisehir, Turkey., Cİlİngİr O; Department of Medical Genetics, Faculty of Medicine, University of Eskisehir Osmangazi, Eskisehir, Turkey., Bor O; Department of Pediatric Hematology, Faculty of Medicine, University of Eskisehir Osmangazi, Eskisehir, Turkey., Gokalp EE; Department of Medical Genetics, Faculty of Medicine, University of Eskisehir Osmangazi, Eskisehir, Turkey., Kocagil S; Department of Medical Genetics, Faculty of Medicine, University of Eskisehir Osmangazi, Eskisehir, Turkey., Artan S; Department of Medical Genetics, Faculty of Medicine, University of Eskisehir Osmangazi, Eskisehir, Turkey., Aras BD; Department of Medical Genetics, Faculty of Medicine, University of Eskisehir Osmangazi, Eskisehir, Turkey.

المصدر: Cancer genetics [Cancer Genet] 2021 Nov; Vol. 258-259, pp. 7-9. Date of Electronic Publication: 2021 Jun 22.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101539150 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2210-7762 (Print) NLM ISO Abbreviation: Cancer Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Aberrations* , Gene Rearrangement* , Philadelphia Chromosome*, Cri-du-Chat Syndrome/*genetics , Leukemia, Biphenotypic, Acute/*genetics , Leukemia, Biphenotypic, Acute/*pathology , Trisomy/*genetics, Child, Preschool ; Chromosomes, Human, Pair 5/genetics ; Humans ; Male ; Prognosis

SCR Disease Name: Chromosome 5, trisomy 5q

المؤلفون: Gümüş E; Departments of Medical Genetics Osmangazi University, Faculty of Medicine, Eskisehir, Turkey., Aras BD; Departments of Medical Genetics Osmangazi University, Faculty of Medicine, Eskisehir, Turkey., Çilingir O; Departments of Medical Genetics Osmangazi University, Faculty of Medicine, Eskisehir, Turkey., Yarar C; Departments of Pediatrics, Osmangazi University, Faculty of Medicine, Eskisehir, Turkey., Çarman KB; Departments of Pediatrics, Osmangazi University, Faculty of Medicine, Eskisehir, Turkey., Laçiner-Gürlevik S; Departments of Pediatrics, Osmangazi University, Faculty of Medicine, Eskisehir, Turkey., Koçak O; Departments of Pediatrics, Osmangazi University, Faculty of Medicine, Eskisehir, Turkey., Artan S; Departments of Medical Genetics Osmangazi University, Faculty of Medicine, Eskisehir, Turkey.

المصدر: The Turkish journal of pediatrics [Turk J Pediatr] 2018; Vol. 60 (4), pp. 361-371.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Hacettepe Medical Center Country of Publication: Turkey NLM ID: 0417505 Publication Model: Print Cited Medium: Internet ISSN: 2791-6421 (Electronic) Linking ISSN: 00414301 NLM ISO Abbreviation: Turk J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Apolipoproteins E/*genetics , Cerebral Palsy/*genetics, Alleles ; Child ; Child, Preschool ; Female ; Gene Frequency ; Genotype ; Humans ; Magnetic Resonance Imaging ; Male ; Pregnancy ; Turkey

المؤلفون: Akay OM; Department of Hematology, Eskisehir Osmangazi University Medical School, Eskisehir, Turkey. Electronic address: olga.akay@hotmail.com., Aras BD; Department of Medical Genetics, Eskisehir Osmangazi University Medical School, Eskisehir, Turkey., Isiksoy S; Department of Pathology, Eskisehir Osmangazi University Medical School, Eskisehir, Turkey., Toprak C; Department of Medical Genetics, Eskisehir Osmangazi University Medical School, Eskisehir, Turkey., Mutlu FS; Department of Biostatistics, Eskisehir Osmangazi University Medical School, Eskisehir, Turkey., Artan S; Department of Medical Genetics, Eskisehir Osmangazi University Medical School, Eskisehir, Turkey., Oner U; Department of Pathology, Eskisehir Osmangazi University Medical School, Eskisehir, Turkey., Gulbas Z; Department of Hematology, Eskisehir Osmangazi University Medical School, Eskisehir, Turkey.

المصدر: Cancer genetics [Cancer Genet] 2014 Mar; Vol. 207 (3), pp. 87-93. Date of Electronic Publication: 2014 Feb 08.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101539150 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2210-7762 (Print) NLM ISO Abbreviation: Cancer Genet Subsets: MEDLINE

مواضيع طبية MeSH: Biomarkers, Tumor* , Gene Order* , Genes, myc* , Prognosis*, Apoptosis Regulatory Proteins/*metabolism , DNA-Binding Proteins/*genetics , Lymphoma, Large B-Cell, Diffuse/*diagnosis , Tumor Suppressor Protein p53/*genetics, Humans ; Lymphoma, Large B-Cell, Diffuse/genetics ; Proto-Oncogene Proteins c-bcl-6 ; Turkey