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: Lafcı NG; Dr. Sami Ulus Obstetrics and Gynecology, Children Health and Disease Training and Research Hospital, Department of Medical Genetics, Ankara, Turkey. nazguleray@hotmail.com., Colak FK; Dr. Sami Ulus Obstetrics and Gynecology, Children Health and Disease Training and Research Hospital, Department of Medical Genetics, Ankara, Turkey., Sahin G; Dr. Sami Ulus Obstetrics and Gynecology, Children Health and Disease Training and Research Hospital, Department of Pediatric Gastroenterology, Hepatology and Nutrition, Ankara, Turkey., Sakar M; Dr. Sami Ulus Obstetrics and Gynecology, Children Health and Disease Training and Research Hospital, Department of Pediatric Endocrinology, Ankara, Turkey., Çetinkaya S; Dr. Sami Ulus Obstetrics and Gynecology, Children Health and Disease Training and Research Hospital, Department of Pediatric Endocrinology, Ankara, Turkey., Savas-Erdeve S; Dr. Sami Ulus Obstetrics and Gynecology, Children Health and Disease Training and Research Hospital, Department of Pediatric Endocrinology, Ankara, Turkey.

المصدر: Hormones (Athens, Greece) [Hormones (Athens)] 2021 Sep; Vol. 20 (3), pp. 581-585. Date of Electronic Publication: 2020 Nov 07.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Springer International Publishing Country of Publication: Switzerland NLM ID: 101142469 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2520-8721 (Electronic) Linking ISSN: 11093099 NLM ISO Abbreviation: Hormones (Athens) Subsets: MEDLINE

مواضيع طبية MeSH: Carbohydrate Metabolism, Inborn Errors* , Hypogonadism*/diagnosis , Hypogonadism*/genetics, Pentose Phosphate Pathway/*genetics , Transaldolase/*deficiency, Adolescent ; Humans ; Male ; Mutation ; Transaldolase/genetics ; alpha-Fetoproteins

SCR Disease Name: Transaldolase Deficiency

المؤلفون: Colak FK; Department of Medical Genetics, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara, Turkey. drfatmakurt@gmail.com., Guleray N; Department of Medical Genetics, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara, Turkey., Azapagasi E; Division of Pediatric Intensive Care Unit, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara, Turkey., Yazıcı MU; Division of Pediatric Intensive Care Unit, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara, Turkey., Aksoy E; Department of Pediatric Neurology, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara, Turkey., Ceylan N; Department of Pediatric Neurology, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara, Turkey.

المصدر: Acta neurologica Belgica [Acta Neurol Belg] 2020 Dec; Vol. 120 (6), pp. 1425-1432. Date of Electronic Publication: 2020 Oct 10.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Italy NLM ID: 0247035 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2240-2993 (Electronic) Linking ISSN: 03009009 NLM ISO Abbreviation: Acta Neurol Belg Subsets: MEDLINE

مواضيع طبية MeSH: Nuclear Proteins/*genetics , Spasms, Infantile/*genetics, Consanguinity ; Fatal Outcome ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation