부산대학교 도서관

Vandervore, Laura V. ; Schot, Rachel ; Milanese, Chiara ; Smits, Daphne J. ; Kasteleijn, Esmee ; Fry, Andrew E. ; Pilz, Daniela T. ; Brock, Stefanie ; Börklü-Yücel, Esra ; Post, Marco ; Bahi-Buisson, Nadia ; Sánchez-Soler, María José ; van Slegtenhorst, Marjon ; Keren, Boris ; Afenjar, Alexandra ; Coury, Stephanie A. ; Tan, Wen-Hann ; Oegema, Renske ; de Vries, Linda S. ; Fawcett, Katherine A. ; Nikkels, Peter G.J. ; Bertoli-Avella, Aida ; Al Hashem, Amal ; Alwabel, Abdulmalik A. ; Tlili-Graiess, Kalthoum ; Efthymiou, Stephanie ; Zafar, Faisal ; Rana, Nuzhat ; Bibi, Farah ; Houlden, Henry ; Maroofian, Reza ; Person, Richard E. ; Crunk, Amy ; Savatt, Juliann M. ; Turner, Lisbeth ; Doosti, Mohammad ; Karimiani, Ehsan Ghayoor ; Saadi, Nebal Waill ; Akhondian, Javad ; Lequin, Maarten H. ; Kayserili, Hülya ; van der Spek, Peter J. ; Jansen, Anna C. ; Kros, Johan M. ; Verdijk, Robert M. ; Milošević, Nataša Jovanov ; Fornerod, Maarten ; Mastroberardino, Pier Giorgio ; Mancini, Grazia M.S.

In The American Journal of Human Genetics 5 December 2019 105(6):1126-1147

Nashabat M; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Nabavizadeh N; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Saraçoğlu HP; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Sarıbaş B; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Avcı Ş; Diagnostic Center for Genetic Diseases, Department of Medical Genetics, Koç University Hospital, Istanbul, Turkey.; Börklü E; Diagnostic Center for Genetic Diseases, Department of Medical Genetics, Koç University Hospital, Istanbul, Turkey.; Beillard E; Department of Biopathology, Centre Léon Bérard, Lyon, France.; Yılmaz E; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Uygur SE; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Kayhan CK; Pathology Laboratory, Acıbadem Maslak Hospital, Istanbul, Turkey.; Department of Biotechnology, Nişantaşı University, Istanbul, Turkey.; Bosco L; Unit of Muscular and Neurodegenerative Disorders and Developmental Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Department of Science, University 'Roma Tre', Rome, Italy.; Eren ZB; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.; Richter MF; Department of Neonatology, Children's and Youth Hospital Auf der Bult, Hannover, Germany.; Bademci G; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.; Research Priority Program (URPP) ITINERARE: Innovative Therapies in Rare Diseases, University of Zurich, Zurich, Switzerland.; Neuroscience Center Zurich, University of Zurich and ETH Zurich, Zurich, Switzerland.; Fattahi Z; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Kariminejad-Najmabadi Pathology & Genetics Centre, Tehran, Iran.; Valentino ML; IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; Connolly AM; Division of Neurology, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH, USA.; Bahr A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.; Viola L; Unit of Clinical Pediatrics, State Hospital, San Marino Republic, Italy.; Bergmann AK; Department of Human Genetics, Hannover Medical School, Hannover, Germany.; Rocha ME; CENTOGENE GmbH, Rostock, Germany.; Peart L; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; Castro-Rojas DL; Genomics Laboratory, Center of Immunology and Genetics (CIGE), SURA Ayudas Diagnosticas, Medellín, Colombia.; Bültmann E; Institute of Diagnostic and Interventional Neuroradiology, Hannover Medical School, Hannover, Germany.; Khan S; CENTOGENE GmbH, Rostock, Germany.; Giarrana ML; Division of Sleep Medicine, University Children's Hospital Zurich, Zurich, Switzerland.; Teleanu RI; Dr Victor Gomoiu Children's Hospital, Bucharest, Romania.; Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.; Gonzalez JM; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; Pini A; Neuromuscular Pediatric Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.; Schädlich IS; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg-Eppendorf, Germany.; Vill K; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany.; Department of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.; Brugger M; Department of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.; Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; John P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Pinto A; CENTOGENE GmbH, Rostock, Germany.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Bivona SA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; Riza A; Human Genomics Laboratory, University of Medicine and Pharmacy, Craiova, Romania.; Regional Centre of Medical Genetics Dolj, County Clinical Emergency Hospital, Craiova, Romania.; Streata I; Human Genomics Laboratory, University of Medicine and Pharmacy, Craiova, Romania.; Regional Centre of Medical Genetics Dolj, County Clinical Emergency Hospital, Craiova, Romania.; Gläser D; Genetikum, Neu-Ulm, Germany.; Baquero-Montoya C; Pediatric department, Hospital Pablo Tobon Uribe, SURA Ayudas Diagnosticas, Medellín, Colombia.; Garcia-Restrepo N; Universidad de Manizales, Manizales, Caldas, Colombia.; Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Brunet T; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany.; Department of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.; Epure DA; Dr Victor Gomoiu Children's Hospital, Bucharest, Romania.; Bertoli-Avella A; CENTOGENE GmbH, Rostock, Germany.; Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Centre, Tehran, Iran.; Tekin M; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; John P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; von Hardenberg S; Department of Human Genetics, Hannover Medical School, Hannover, Germany.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Stettner GM; Neuromuscular Center Zurich and Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Zanni G; Unit of Muscular and Neurodegenerative Disorders and Developmental Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Kayserili H; Diagnostic Center for Genetic Diseases, Department of Medical Genetics, Koç University Hospital, Istanbul, Turkey.; Department of Medical Genetics, Koç University School of Medicine (KUSoM), Istanbul, Turkey.; Oflazer ZP; Department of Neurology, Koç University Hospital Muscle Center, Istanbul, Turkey.; Escande-Beillard N; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey. nbeillard@ku.edu.tr.; Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine (KUSoM), Istanbul, Turkey. nbeillard@ku.edu.tr.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Keskin, Muhammed ; Avşar, Şahin ; Hayıroğlu, Mert İlker ; Keskin, Taha ; Börklü, Edibe Betül ; Kaya, Adnan ; Uzun, Ahmet Okan ; Akyol, Burcu ; Güvenç, Tolga Sinan ; Kozan, Ömer

In The American Journal of Cardiology 1 July 2017 120(1):154-159

Keskin, M. ; Hayıroğlu, M.İ. ; Keskin, T. ; Kaya, A. ; Tatlısu, M.A. ; Altay, Servet ; Uzun, A.O. ; Börklü, E.B. ; Güvenç, T.S. ; Avcı, İ.İ. ; Kozan, Ö.

In Nutrition, Metabolism and Cardiovascular Diseases May 2017 27(5):438-446

Keskin, Muhammed ; Kaya, Adnan ; Tatlısu, Mustafa Adem ; Hayıroğlu, Mert İlker ; Uzman, Osman ; Börklü, Edibe Betül ; Çinier, Göksel ; Çakıllı, Yasin ; Yaylak, Barış ; Eren, Mehmet

In International Journal of Cardiology 15 October 2016 221:505-510

Çepni E; Institute of Health Sciences, Koç University, Istanbul, Turkey.; Börklü E; Genetic Diseases Evaluation Center, Koç University Hospital, Istanbul, Turkey.; Avcı Ş; Genetic Diseases Evaluation Center, Koç University Hospital, Istanbul, Turkey.; Kalaycı T; Division of Medical Genetics, Department of Internal Medicine, İstanbul School of Medicine, İstanbul University, İstanbul, Turkey.; Eraslan S; Genetic Diseases Evaluation Center, Koç University Hospital, Istanbul, Turkey.; Kayserili H; Institute of Health Sciences, Koç University, Istanbul, Turkey.; Genetic Diseases Evaluation Center, Koç University Hospital, Istanbul, Turkey.; Medical Genetics Department, Koç University School of Medicine (KUSoM), Istanbul, Turkey.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Börklü E; Genetic Diseases Evaluation Center, Koc University Hospital, İstanbul, Turkey.

Publisher: Wiley Country of Publication: England NLM ID: 8607637 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0061 (Electronic) Linking ISSN: 0749503X NLM ISO Abbreviation: Yeast Subsets: MEDLINE

Börklü E; Diagnostic Center for Genetic Diseases, Koc University Hospital, Istanbul, Turkey.; Altunoğlu U; Diagnostic Center for Genetic Diseases, Koc University Hospital, Istanbul, Turkey.; Department of Medical Genetics, Koc University School of Medicine, Istanbul, Turkey.; Eraslan S; Diagnostic Center for Genetic Diseases, Koc University Hospital, Istanbul, Turkey.; Kayserili H; Diagnostic Center for Genetic Diseases, Koc University Hospital, Istanbul, Turkey.; Department of Medical Genetics, Koc University School of Medicine, Istanbul, 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

Altunoglu U; Medical Genetics Department, Koç University School of Medicine (KUSoM) and Hospital, Istanbul, Turkey.; Medical Genetics Department, Istanbul University Istanbul Medical School, Istanbul, Turkey.; Börklü E; Medical Genetics Department, Koç University School of Medicine (KUSoM) and Hospital, Istanbul, Turkey.; Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.; Escande-Beillard N; Medical Genetics Department, Koç University School of Medicine (KUSoM) and Hospital, Istanbul, Turkey.; Institute of Medical Biology, ASTAR, Singapore, Singapore.; Ledig S; Institut für Humangenetik, Westfaelische Wilhelms-Universitaet Muenster, Muenster, Germany.; Azaklı H; Medical Genetics Department, Koç University School of Medicine (KUSoM) and Hospital, Istanbul, Turkey.; Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.; Eraslan S; Medical Genetics Department, Koç University School of Medicine (KUSoM) and Hospital, Istanbul, Turkey.; Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.; Kennerknecht I; Institut für Humangenetik, Westfaelische Wilhelms-Universitaet Muenster, Muenster, Germany.; Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM) and Hospital, Istanbul, Turkey.; Medical Genetics Department, Istanbul University Istanbul Medical School, Istanbul, Turkey.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Börklü E; Koç University Hospital, Genetic Diseases Evaluation Center, Koç University, İstanbul, Turkey.

Publisher: Scientific and Technical Research Council of Turkey Country of Publication: Turkey NLM ID: 9434434 Publication Model: eCollection Cited Medium: Internet ISSN: 1303-6092 (Electronic) Linking ISSN: 13000152 NLM ISO Abbreviation: Turk J Biol Subsets: PubMed not MEDLINE

Durmuş NA; Department of Neurosurgery, Erciyes University.; Şahin A; Department of Neurosurgery, Erciyes University.; Abat E; Develi Dr. Ekrem Karakaya State Hospital.; Oral Ş; Department of Neurosurgery, Erciyes University.; Börklü RE; Kayseri City Training and Research Hospital.; Ulutabanca H; Department of Neurosurgery, Erciyes University.; Küçük A; Department of Neurosurgery, Erciyes University.; Biçer E; Kayseri City Training and Research Hospital.; Koç RK; Department of Neurosurgery, Erciyes University.

Publisher: Wolters Kluwer Country of Publication: United States NLM ID: 101675083 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2380-0194 (Electronic) Linking ISSN: 23800186 NLM ISO Abbreviation: Clin Spine Surg Subsets: MEDLINE

Börklü-Yücel E; Diagnostic Center for Genetic Diseases, Koc University Hospital, Koç University, 34010, Istanbul, Turkey.; Demiriz Ç; Diagnostic Center for Genetic Diseases, Koc University Hospital, Koç University, 34010, Istanbul, Turkey.; Avcı Ş; Diagnostic Center for Genetic Diseases, Koc University Hospital, Koç University, 34010, Istanbul, Turkey.; Vanlı-Yavuz EN; Neurology Department, Center for Muscle Diseases, Koç University School of Medicine (KUSoM), 34010, İstanbul, Turkey.; Eraslan S; Diagnostic Center for Genetic Diseases, Koc University Hospital, Koç University, 34010, Istanbul, Turkey.; Oflazer P; Neurology Department, Center for Muscle Diseases, Koç University School of Medicine (KUSoM), 34010, İstanbul, Turkey.; Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM), 34010, Istanbul, Turkey. hkayserili@kuh.ku.edu.tr.

Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

Kelekçi S; School of Medicine, Koc University, Istanbul, Turkey.; Uğurlu-Çimen D; School of Medicine, Koc University, Istanbul, Turkey.; Demir AB; School of Medicine, Koc University, Istanbul, Turkey.; Özçimen B; School of Medicine, Koc University, Istanbul, Turkey.; Burak Yıldız A; School of Medicine, Koc University, Istanbul, Turkey.; Batuhan Karakuş M; School of Medicine, Koc University, Istanbul, Turkey.; Börklü Yücel E; Diagnostic Center for Genetic Diseases, Koc University Hospital, Koc University, Istanbul, Turkey.; Önder TT; School of Medicine, Koc University, Istanbul, Turkey. Electronic address: tonder@ku.edu.tr.

Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

Keskin, M.; Borklu, E. B.; Dogan, S.; Ozturk, B.; Tenekecioglu, E.; Keser, N.; Orhan, A. L.

EUROPEAN HEART JOURNAL; OCT 2021, 42 p2888-p2888, 1p. Supplement: 1

Keskin, M.; Ipek, G.; Aldag, M.; Altay, S.; Hayiroglu, M. I.; Borklu, E. B.; Inan, D.; Kozan, O.

EUROPEAN HEART JOURNAL; AUG 2018, 39 p666-p667, 2p. Supplement: 1

Şakar , Dolunay; Karahan, Mesut; Börklü, R. Bilge

Keskin, M.; Hayiroglu, M. I.; Keskin, T.; Kaya, A.; Tatlisu, M. A.; Altay, S.; Uzun, A. O.; Borklu, E. B.; Guvenc, T. S.; Avci, I. I.; Kozan, O.

EUROPEAN HEART JOURNAL; AUG 2017, 38 p1198-p1199, 2p. Supplement: 1

MAYDA, Murat; BÖRKLÜ, Hüseyin

Volume: 2, Issue: 1 169-180
Gazi Üniversitesi Fen Bilimleri Dergisi Part C: Tasarım ve Teknoloji
Gazi University Journal of Science Part C: Design and Technology

Hayiroglu, M. I.; Uzun, A. O.; Keskin, M.; Borklu, E. B.; Turkkan, C.; Tekkesin, A. I.; Kozan, O.

EUROPEAN HEART JOURNAL; AUG 2018, 39 p463-p463, 1p. Supplement: 1