학술논문
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'학술논문'
에서 검색결과 180건 | 목록
1~20
Academic Journal
Wieczorek D; Bögershausen N; Beleggia F; Steiner Haldenstätt S; Pohl E; Li Y; Milz E; Martin M; Thiele H; Altmüller J; Alanay Y; Kayserili H; Klein Hitpass L; Böhringer S; Wollstein A; Albrecht B; Boduroglu K; Caliebe A; Chrzanowska K; Cogulu O; Cristofoli F; Czeschik JC; Devriendt K; DOTTI, MARIA; Elcioglu N; Gener B; Goecke TO; Krajewska Walasek M; Guillén Navarro E; Hayek J; Houge G; Kilic E; Simsek Kiper PO; López González V; Kuechler A; Lyonnet S; MARI, FRANCESCA; Marozza A; Mathieu Dramard M; Mikat B; Morin G; Morice Picard F; Ozkynay F; Rauch A; RENIERI, ALESSANDRA; Tinschert S; Utine GE; Vilain C; Vivarelli R; Zweier C; Nürnberg P; Rahmann S; Vermeesch J; Lüdecke HJ; Zeschnigk M; Wollnik B.
Human Molecular Genetics. 22:5121-5135
Academic Journal
Iida, A; Simsek-Kiper, PO; Mizumoto, S; Hoshino, T; Elcioglu, N; Horemuzova, E; Geiberger, S; Yesil, G; Kayserili, H; Utine, GE
HUMAN MUTATION. 34(10):1381-1386
Academic Journal
Attié-Bitach, T; Beales, PL; Vekemans, M; Gonzales, M; Katsanis, N; Winey, M; Siffroi, JP; Encha-Razavi, F; Lyonnet, S; Goudin, N; Schmitt, A; Cagnard, N; Bole-Feysot, C; Akarsu, NA; Colin, E; Hennekam, R; Cormier-Daire, V; Munnich, A; Thauvin-Robinet, C; Fertitta, L; Nitschke, P; Boduroglu, K; Utine, GE; Pruvost, S; Joyé, N; Rigonnot, L; Frison, MH; Elkhartoufi, N; Bennett, CL; Patrier, S; Gomes, C; Buzas, D; Uz, ELİF; Ogur, G; Alanay, Y; Davis, EE; Coene, KL; Thomas, S; Putoux, A
Nature Genetics. 43:601-606
Conference
De Paepe, A; Thiel, C; Haack, TB; Malfair, F; Morava, E; Callewaert, B; Mak, CCY; van Scherpenzeei, M; Wong, SY; Kamstccg, EJ; Hotschen, A; De Rycke, R; Steyaert, W; Syx, D; Lefeber, DJ; van Kraaij, S; Dalloyaux, D; Kariminejad, A; Guillemyn, B; Freisinger, P; Gucerrero-Castillo, S; Mohamed, M; Gardenchik, T; van Damme, T; Jamali, P; Brandt, U; Nijtmans, L; Korenke, C; Chung, BHY; Hausser, I; Kornak, U; Fischer-Zirnsak, B; Strom, TM; Meitinger, T; Alanay, Y; Utine, GE; Leung, PKC; Ghadcri-Soli, S; Coucke, P; Symoens, S
Academic Journal
Bornholdt D; Oeffner F; König A; Happle R; Alanay Y; Ascherman J; Benke PJ; Boente Mdel C; van der Burgt I; Chassaing N; Ellis I; Francisco CR; Della Giovanna P; Hamel B; Has C; Heinelt K; Janecke A; Kastrup W; Loeys B; Lohrisch I; Marcelis C; Mehraein Y; Nicolas ME; Pagliarini D; Paradisi M; PATRIZI, ANNALISA; Piccione M; Piza Katzer H; Prager B; Prescott K; Strien J; Utine GE; Zeller MS; Grzeschik KH
Human Mutation, 30, 5, pp. E618-28
Academic Journal
Chest. 128(3)
Academic Journal
Bektaş H; Pediatric Neurology Clinic, Ordu University Education and Research Hospital, Ordu, Turkey.; Şener N; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Bilgin N; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Ürel Demir G; Department of Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Öncel İ; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Öztoprak Ü; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Temuçin ÇM; Department of Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Şimşek Kiper PÖ; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Haliloğlu G; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address: gtuncer@hacettepe.edu.tr.
Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE
Academic Journal
Erkan DD; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Soğukpınar M; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Demir GÜ; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Şimşek-Kiper PÖ; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE
Academic Journal
Daşar T; Department of Pediatric Genetics, Bilkent City Hospital, Ankara, Turkiye.; Department of Pediatric Genetics, Hacettepe University, Ankara, Turkiye.; Ürel Demir G; Department of Pediatric Genetics, Hacettepe University, Ankara, Turkiye.; İmren G; Department of Medical Genetics, Hacettepe University, Ankara, Turkiye.; Utine GE; Department of Pediatric Genetics, Hacettepe University, Ankara, Turkiye.; Yilmaz G; Department of Orthopedics, Hacettepe University, Ankara, Turkiye.; Şimşek Kiper PÖ; Department of Pediatric Genetics, Hacettepe University, Ankara, Turkiye.
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
Academic Journal
Motta, Marialetizia; Fasano, Giulia; Gredy, Sina; Brinkmann, Julia; Bonnard, Adeline Alice; Simsek-Kiper, Pelin Ozlem; Gulec, Elif Yilmaz; Essaddam, Leila; Utine, Gulen Eda; Guarnetti Prandi, Ingrid; Venditti, Martina; Pantaleoni, Francesca; Radio, Francesca Clementina; Ciolfi, Andrea; Petrini, Stefania; Consoli, Federica; Vignal, Cédric; Hepbasli, Denis; Ullrich, Melanie; de Boer, Elke; Vissers, Lisenka E L M; Gritli, Sami; Rossi, Cesare; De Luca, Alessandro; Ben Becher, Saayda; Gelb, Bruce D; Dallapiccola, Bruno; Lauri, Antonella; Chillemi, Giovanni; Schuh, Kai; Cavé, Hélène; Zenker, Martin; Tartaglia, Marco
American Journal of Human Genetics, 108, 11, pp. 2112-2129
Academic Journal
Koyuncuoglu MA; Department of Ophthalmology, Hacettepe University, Ankara, Turkey.; Taylan Sekeroglu H; Department of Ophthalmology, Hacettepe University, Ankara, Turkey.; Urel Demir G; Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.; Simsek Kiper O; Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.; Karakaya J; Department of Biostatistics, Hacettepe University, Ankara, Turkey.; Utine GE; Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE
Academic Journal
Daşar T; Department of Pediatrics, Division of Pediatric Genetics, Hacettepe University, Ankara, Turkey.; Department of Pediatrics, Division of Pediatric Genetics, Bilkent City Hospital, Ankara, Turkey.; Aypar E; Department of Pediatrics, Division of Pediatric Cardiology, Hacettepe University, Ankara, Turkey.; Utine GE; Department of Pediatrics, Division of Pediatric Genetics, Hacettepe University, Ankara, Turkey.; Şimşek-Kiper PÖ; Department of Pediatrics, Division of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE
Editorial & Opinion
Haliloğlu G; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address: gtuncer@hacettepe.edu.tr.; Özel E; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Ürel Demir G; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Göçmen R; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Şimşek Kiper PÖ; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: In Process; MEDLINE
Academic Journal
Avci Durmusalioglu E; Department of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Isik E; Department of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Turkut Tan T; Department of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Dogan YC; Department of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Nur B; Department of Pediatric Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.; Yeter B; Department of Pediatric Genetics, Umraniye Training and Research Hospital, Istanbul, Turkey.; Sanri A; Department of Pediatric Genetics, Samsun Training and Research Hospital, Samsun, Turkey.; Uludag Alkaya D; Department of Pediatric Genetics, Cerrahpasa Faculty of Medicine, Istanbul University - Cerrahpasa, Istanbul, Turkey.; Ozturk Yilmaz S; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.; Akalin A; Department of Pediatric Genetics, Diyarbakir Children's Hospital, Diyarbakir, Turkey.; Urel Demir G; Department of Pediatric Genetics, Mersin Training and Research Hospital, Mersin, Turkey.; Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Yilmaz A; Department of Pediatric Genetics, Ondokuz Mayis University, Samsun, Turkey.; Sogukpinar M; Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Yilmaz Bayer O; Department of Pediatric Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.; Giray Bozkaya O; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.; Sezer O; Department of Medical Genetics, Faculty of Medicine, Samsun University, Samsun, Turkey.; Simsek Kiper PO; Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Utine GE; Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Tuysuz B; Department of Pediatric Genetics, Cerrahpasa Faculty of Medicine, Istanbul University - Cerrahpasa, Istanbul, Turkey.; Cogulu O; Department of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Mihci E; Department of Pediatric Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.; Atik T; Department of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.
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
Academic Journal
Nayır Büyükşahin H; Department of Pediatrics, Division of Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Emiralioğlu N; Department of Pediatrics, Division of Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Yalçın E; Department of Pediatrics, Division of Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Ozcan HN; Department of Radiology, Division of Pediatric Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Oğuz B; Department of Radiology, Division of Pediatric Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Utine GE; Department of Pediatrics, Division of Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Kiper PÖ; Department of Pediatrics, Division of Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Karaosmanoğlu B; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Orhan D; Department of Pathology, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Unal S; Department of Pediatric Hematology, Research Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes, Hacettepe University, Ankara, Turkey.; Güzelkaş İ; Department of Pediatrics, Division of Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Alboğa D; Department of Pediatrics, Division of Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Doğru D; Department of Pediatrics, Division of Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Özçelik U; Department of Pediatrics, Division of Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Kiper N; Department of Pediatrics, Division of Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Publisher: Blackwell Scientific Publications Country of Publication: Australia NLM ID: 9005421 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-1754 (Electronic) Linking ISSN: 10344810 NLM ISO Abbreviation: J Paediatr Child Health Subsets: In Process; MEDLINE
Academic Journal
Karaosmanoglu B; Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Türkiye.; Imren G; Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Türkiye.; Ozisin MS; Institute of Health Sciences, Department of Medical and Surgical Research, Hacettepe University, Ankara, Türkiye.; Reçber T; Faculty of Pharmacy, Department of Analytical Chemistry, Hacettepe University, Ankara, Türkiye.; Simsek Kiper PO; Faculty of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara, Türkiye.; Haliloglu G; Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Hacettepe University, Ankara, Türkiye.; Alikaşifoğlu M; Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Türkiye.; Nemutlu E; Faculty of Pharmacy, Department of Analytical Chemistry, Hacettepe University, Ankara, Türkiye.; Taskiran EZ; Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Türkiye. ekimtaskiran@gmail.com.; Utine GE; Faculty of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara, Türkiye. geutine@hacettepe.edu.tr.
Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE
Soğukpınar M; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey. merveguvenoglublk@gmail.com.; Demir GÜ; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Gönç EN; Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Özön ZA; Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Şimşek-Kiper PÖ; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: PubMed not MEDLINE; MEDLINE
Academic Journal
Şimşek-Kiper PÖ; Department of Pediatrics, Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Karaosmanoğlu B; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Taşkıran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Türer ÖB; Department of Pediatric Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Utine GE; Department of Pediatrics, Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Soyer T; Department of Pediatric Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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
Academic Journal
Soğukpınar M; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey. merveguvenoglublk@gmail.com.; Demir GÜ; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Gönç EN; Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Özön ZA; Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Şimşek-Kiper PÖ; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE
Academic Journal
Ürel-Demir G; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Başer B; Department of Medical Genetics, Mersin City Training and Research Hospital, Mersin, Turkey.; Göçmen R; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Şimşek-Kiper PÖ; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Haliloğlu G; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE
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[검색어] Utine, GE
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