Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Tug Bozdogan S"" wg kryterium: Autor


Wyświetlanie 1-10 z 10
Tytuł :
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
Autorzy :
Schottlaender LV; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, WC1N 1EH London, UK; Argentine National Scientific and Technological Research Council (CONICET), C1425FQB Buenos Aires, Argentina; FLENI Neurological Research Institute, C1428 AQK Buenos Aires, Argentina.
Abeti R; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK.
Jaunmuktane Z; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK; Division of Neuropathology, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, Queen Square, London WC1N 3BG, UK.
Macmillan C; Department of Pediatrics, University of Chicago, Chicago, IL 60637, USA.
Chelban V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
O'Callaghan B; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
McKinley J; Department of Neurology, Dublin Neurological Institute at the Mater Misericordiae University Hospital, 57 Eccles St, Dublin 7 DO7W7XF, Ireland; Regional Neurosciences Centre, Royal Victoria Hospital, Belfast BT12 6BA, UK.
Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Athanasiou-Fragkouli A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Forbes R; Neurology Centre, Southern HSC Trust, Craigavon Area Hospital, Portadown BT63 5QQ, UK.
Soutar MPM; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Livingston JH; Paediatric Neurology, The Leeds Teaching Hospitals NHS Trust, Leeds General Infirmary, Leeds LS1 3EX, UK.
Kalmar B; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Swayne O; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK; The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
Hotton G; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK; The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
Pittman A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Mendes de Oliveira JR; Universidade Federal de Pernambuco, Departamento de Neuropsiquiatria, Recife 50670-901, Brazil.
de Grandis M; Aix-Marseille University, Inserm, CNRS, Institut Paoli-Calmettes, CRCM, 13009 Marseille, France.
Richard-Loendt A; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Launchbury F; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Althonayan J; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK.
McDonnell G; Regional Neurosciences Centre, Royal Victoria Hospital, Belfast BT12 6BA, UK.
Carr A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK; The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
Khan S; CENTOGENE AG, Rostock 18055, Germany.
Beetz C; CENTOGENE AG, Rostock 18055, Germany.
Bisgin A; Medical Genetics Department of Medical Faculty & AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Çukurova University, Adana 01330, Turkey.
Tug Bozdogan S; Medical Genetics Department of Medical Faculty & AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Çukurova University, Adana 01330, Turkey.
Begtrup A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Torti E; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Greensmith L; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Giunti P; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK.
Morrison PJ; Centre for Cancer Research and Cell Biology, Queens University, Belfast BT9 7AE, UK.
Brandner S; Division of Neuropathology, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, Queen Square, London WC1N 3BG, UK.
Aurrand-Lions M; Aix-Marseille University, Inserm, CNRS, Institut Paoli-Calmettes, CRCM, 13009 Marseille, France.
Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK; The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK; Neurogenetics Laboratory and Clinical Service, The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK. Electronic address: .
Pokaż więcej
Corporate Authors :
SYNAPS Study Group; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Źródło :
American journal of human genetics [Am J Hum Genet] 2020 Mar 05; Vol. 106 (3), pp. 412-421.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Age of Onset*
Alleles*
Genes, Recessive*
Brain Diseases/*genetics
Calcinosis/*genetics
Cell Adhesion Molecules/*genetics
Adolescent ; Adult ; Animals ; Brain Diseases/diagnostic imaging ; Calcinosis/diagnostic imaging ; Child ; Female ; Humans ; Male ; Mice ; Middle Aged ; Pedigree
Czasopismo naukowe
Tytuł :
IL-1RN VNTR, IL-2(-330), and IL-4 VNTR gene polymorphisms in patients with chronic rhinosinusitis with sinonasal polyposis
Autorzy :
Kuran G; Adana City Training and Research Hospital, ENT Department, Adana, Turkey
Aslan H; Eskisehir Osmangazi University Medical Faculty, Department of Medical Genetics, Eskisehir, Turkey
Haytoğlu S; Adana City Training and Research Hospital, ENT Department, Adana, Turkey
Özalp Yüreğir Ö; Adana City Training and Research Hospital, Department of Medical Genetics, Adana, Turkey
Tuğ Bozdoğan S; Mersin University Medical Faculty, Department of Medical Genetics, Mersin, Turkey
Pokaż więcej
Źródło :
Turkish journal of medical sciences [Turk J Med Sci] 2019 Oct 24; Vol. 49 (5), pp. 1411-1417. Date of Electronic Publication: 2019 Oct 24.
Typ publikacji :
Journal Article
MeSH Terms :
Interleukin 1 Receptor Antagonist Protein/*genetics
Interleukin-2/*genetics
Interleukin-4/*genetics
Minisatellite Repeats/*genetics
Nasal Polyps/*genetics
Paranasal Sinus Diseases/*genetics
Polymorphism, Single Nucleotide/*genetics
Rhinitis/*genetics
Sinusitis/*genetics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Alleles ; Case-Control Studies ; Chronic Disease ; Female ; Genetic Predisposition to Disease/genetics ; Humans ; Male ; Middle Aged ; Young Adult
Czasopismo naukowe
Tytuł :
BRCA mutation characteristics in a series of index cases of breast cancer selected independent of family history.
Autorzy :
Bisgin A; Faculty of Medicine, Medical Genetics Department of Balcali Clinic and Hospital, Cukurova University, Adana, Turkey.; Cukurova University AGENTEM (Adana Genetic Disease Diagnosis and Treatment Center), Adana, Turkey.
Boga I; Cukurova University AGENTEM (Adana Genetic Disease Diagnosis and Treatment Center), Adana, Turkey.; Department of Biotehnology, Institute of Science, Cukurova University, Adana, Turkey.
Yalav O; General Surgey Department of Balcali Clinis and Hospital, Faculty of Medicine, Cukurova Unversity, Adana, Turkey.
Sonmezler O; Cukurova University AGENTEM (Adana Genetic Disease Diagnosis and Treatment Center), Adana, Turkey.; Department of Biotehnology, Institute of Science, Cukurova University, Adana, Turkey.
Tug Bozdogan S; Faculty of Medicine, Medical Genetics Department of Balcali Clinic and Hospital, Cukurova University, Adana, Turkey.; Cukurova University AGENTEM (Adana Genetic Disease Diagnosis and Treatment Center), Adana, Turkey.
Pokaż więcej
Źródło :
The breast journal [Breast J] 2019 Sep; Vol. 25 (5), pp. 1029-1033. Date of Electronic Publication: 2019 Jun 22.
Typ publikacji :
Journal Article
MeSH Terms :
Genes, BRCA1*
Genes, BRCA2*
Mutation*
Breast Neoplasms/*genetics
Breast Neoplasms/etiology ; Female ; Genetic Predisposition to Disease ; Humans
Czasopismo naukowe
Tytuł :
Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene.
Autorzy :
Hallıoğlu Kılınç O
Giray D; Department of Pediatric Cardiology, Mersin University Faculty of Medicine, Mersin, Turkey. .
Bişgin A
Tuğ Bozdoğan S
Karpuz D
Pokaż więcej
Źródło :
Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir [Turk Kardiyol Dern Ars] 2017 Jul; Vol. 45 (5), pp. 450-453.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Cardiomyopathy, Hypertrophic, Familial/*genetics
Carrier Proteins/*genetics
Cardiomyopathy, Hypertrophic, Familial/complications ; Cardiomyopathy, Hypertrophic, Familial/diagnostic imaging ; Child, Preschool ; Echocardiography ; Female ; Heart Septal Defects, Ventricular/complications ; Humans ; Male ; Mutation
Czasopismo naukowe
Tytuł :
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Autorzy :
Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Harel T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Coban Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Erdin S; Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Campbell IM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Hunter JV; Department of Pediatric Radiology, Texas Children's Hospital, Houston, TX 77030, USA.
Atik MM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Van Esch H; Center for Human Genetics, University Hospitals Leuven, Herestraat, 49 B 3000 Leuven, Belgium.
Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Wiszniewski W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Isikay S; Department of Child Neurology, Gaziantep Children's Hospital, Gaziantep 27560, Turkey.
Yesil G; Department of Medical Genetics, Bezmialem University, Istanbul 34093, Turkey.
Yuregir OO; Department of Medical Genetics, Numune Training and Research Hospital, Adana 01240, Turkey.
Tug Bozdogan S; Department of Medical Genetics, Mersin University, Mersin 33343, Turkey.
Aslan H; Department of Medical Genetics, Medical Faculty of Eskisehir Osmangazi University, Eskisehir 26480, Turkey.
Aydin H; Department of Medical Genetics, Medical Faculty of Namik Kemal University, Tekirdag 59100, Turkey.
Tos T; Department of Medical Genetics, Sami Ulus Children's Hospital, Ankara 06080, Turkey.
Aksoy A; Department of Pediatric Neurology, Sami Ulus Children's Hospital, Ankara 06080, Turkey.
De Vivo DC; Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
Jain P; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032, USA.
Geckinli BB; Department of Medical Genetics, Marmara University School of Medicine, Istanbul 34722, Turkey.
Sezer O; Department of Medical Genetics, Samsun Education and Research Hospital, Samsun 55100, Turkey.
Gul D; Department of Medical Genetics, Gulhane Military Medical School, Ankara 06010, Turkey.
Durmaz B; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir 35040, Turkey.
Cogulu O; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir 35040, Turkey.
Ozkinay F; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir 35040, Turkey.
Topcu V; Department of Medical Genetics, Zekai Tahir Burak Women's Health Training and Research Hospital, Ankara 06230, Turkey.
Candan S; Medical Genetics Section, Balikesir Ataturk Public Hospital, Balikesir 10100, Turkey.
Cebi AH; Department of Medical Genetics, Karadeniz Technical University, Trabzon 61310, Turkey.
Ikbal M; Department of Medical Genetics, Karadeniz Technical University, Trabzon 61310, Turkey.
Yilmaz Gulec E; Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Gezdirici A; Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Koparir E; Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Ekici F; Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Coskun S; Department of Medical Genetics, Dicle University Faculty of Medicine, Diyarbakir 21280, Turkey.
Cicek S; Medical Genetics Section, Konya Numune Training and Research Hospital, Konya 42250, Turkey.
Karaer K; Intergen Genetic Center, Ankara 06700, Turkey.
Koparir A; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Duz MB; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Kirat E; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Fenercioglu E; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Ulucan H; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Seven M; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Guran T; Department of Pediatric Endocrinology and Diabetes, Marmara University Hospital, Istanbul 34899, Turkey.
Elcioglu N; Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul 34854, Turkey.
Yildirim MS; Department of Genetics, Necmettin Erbakan University, Meram Medical Faculty, Konya 42060, Turkey.
Aktas D; Damagen Genetic Diagnostic Center and Department of Medical Genetics, Hacettepe University Medical School, Ankara 06230, Turkey.
Alikaşifoğlu M; Damagen Genetic Diagnostic Center and Department of Medical Genetics, Hacettepe University Medical School, Ankara 06230, Turkey.
Ture M; Department of Medical Genetics, Uludag University Medical Faculty, Bursa 16120, Turkey.
Yakut T; Department of Medical Genetics, Uludag University Medical Faculty, Bursa 16120, Turkey.
Overton JD; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Yuksel A; Biruni University, Istanbul 34010, Turkey.
Ozen M; Biruni University, Istanbul 34010, Turkey.
Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Adams DR; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Chung WK; Department of Pediatrics and Medicine, Columbia University Medical Center, 1150 St. Nicholas Avenue, New York, NY 10032, USA.
Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: .
Pokaż więcej
Źródło :
Neuron [Neuron] 2015 Nov 04; Vol. 88 (3), pp. 499-513.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Brain/*pathology
Gene Regulatory Networks/*genetics
Genetic Variation/*genetics
Mendelian Randomization Analysis/*methods
Nervous System Diseases/*diagnosis
Nervous System Diseases/*genetics
Brain/abnormalities ; Cohort Studies ; Databases, Genetic ; Female ; Genetic Association Studies/methods ; Humans ; Male ; Pedigree
Czasopismo naukowe
    Wyświetlanie 1-10 z 10

    Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies