Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Fenercioglu E"'
Autor:
Miceli, Alberto1 (AUTHOR) alberto.miceli@ospedale.al.it, Liberini, Virginia2 (AUTHOR) liberini.v@ospedale.cuneo.it, Pepe, Giovanna3 (AUTHOR) gi.pepe@smatteo.pv.it, Dondi, Francesco4 (AUTHOR) francesco.dondi@unibs.it, Vento, Antonio5 (AUTHOR) antvento@hotmail.it, Jonghi Lavarini, Lorenzo6 (AUTHOR) l.jonghilavarini@campus.unimib.it, Celesti, Greta7 (AUTHOR) clsgrt94c44f158d@studenti.unime.it, Gazzilli, Maria8 (AUTHOR) maria.gazzilli@asl.bari.it, Serani, Francesca9 (AUTHOR) francesca.serani@asl.pe.it, Guglielmo, Priscilla10 (AUTHOR) priscilla.guglielmo@iov.veneto.it, Buschiazzo, Ambra2 (AUTHOR) buschiazzo.a@ospedale.cuneo.it, Filice, Rossella11 (AUTHOR) rossella.filice@policlinico.pa.it, Alongi, Pierpaolo12 (AUTHOR) pierpaolo.alongi@arnascivico.it, Laudicella, Riccardo7 (AUTHOR) rlaudicella@unime.it, Santo, Giulia13 (AUTHOR) giulia.santo@unicz.it
Publikováno v:
Diagnostics (2075-4418). May2024, Vol. 14 Issue 10, p1002. 18p.
Autor:
Schaffer AE; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA. ashleigh.schaffer@case.edu.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA. ashleigh.schaffer@case.edu., Breuss MW; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Caglayan AO; Departments of Neurosurgery, Neurobiology, and Genetics, Yale University School of Medicine, New Haven, CT, USA.; Department of Medical Genetics, Istanbul Bilim University, Istanbul, Turkey., Al-Sanaa N; Department of Pediatrics, Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia., Al-Abdulwahed HY; Department of Pediatrics, Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia., Kaymakçalan H; Department of Pediatrics, Istanbul Bilim University, Istanbul, Turkey., Yılmaz C; Department of Pediatrics, Yıldırım Beyazıt University, Ankara, Turkey., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Rosti RO; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Copeland B; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Baek ST; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Musaev D; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Scott EC; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Ben-Omran T; Clinical and Metabolic Genetics Section, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar., Kariminejad A; Kariminejad-Najmabadi Pathology and Genetic Center, Tehran, Iran., Kayserili H; Department of Medical Genetics, Koç University School of Medicine, Istanbul, Turkey., Mojahedi F; Mashhad Medical Genetic Counseling Center, Mashhad, Iran., Kara M; University of Tripoli, Tripoli Children's Hospital, Tripoli, Libya., Cai N; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Silhavy JL; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Elsharif S; University of Tripoli, Tripoli Children's Hospital, Tripoli, Libya., Fenercioglu E; L.E.S. Mikrogen Genetic Diseases Diagnosis Center, Istanbul, Turkey., Barshop BA; Department of Pediatrics, Biochemical Genetics Program, University of California, San Diego, San Diego, CA, USA., Kara B; Department of Pediatric Neurology, Kocaeli University, Kocaeli, Turkey., Wang R; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Stanley V; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., James KN; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Nachnani R; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA., Kalur A; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA., Megahed H; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Incecik F; Department of Pediatric Neurology, Cukurova University, Adana, Turkey., Danda S; Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, India., Alanay Y; Pediatric Genetics Unit, Department of Pediatrics, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey., Faqeih E; Section of Medical Genetics, Department of Pediatrics, King Fahad Medical City, Children's Hospital, Riyadh, Saudi Arabia., Melikishvili G; Department of Pediatrics, MediClubGeorgia, Tbilisi, Georgia., Mansour L; Pediatric Department, Neuropediatric Unit, Cairo University Children's Hospital, Cairo, Egypt., Miller I; Neurology Department, Nicklaus Children's Hospital, Miami, FL, USA., Sukhudyan B; Arabkir Joint Medical Center and Institute of Child and Adolescent Health, Yerevan, Armenia., Chelly J; Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France., Dobyns WB; Departments of Pediatrics and Neurology, University of Washington, Seattle, WA, USA., Bilguvar K; Departments of Neurosurgery, Neurobiology, and Genetics, Yale University School of Medicine, New Haven, CT, USA., Jamra RA; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Gunel M; Departments of Neurosurgery, Neurobiology, and Genetics, Yale University School of Medicine, New Haven, CT, USA., Gleeson JG; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA. jogleeson@ucsd.edu.
Publikováno v:
Nature genetics [Nat Genet] 2018 Aug; Vol. 50 (8), pp. 1093-1101. Date of Electronic Publication: 2018 Jul 16.
Autor:
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: jlupski@bcm.edu.
Publikováno v:
Neuron [Neuron] 2015 Nov 04; Vol. 88 (3), pp. 499-513.
Autor:
Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, Gonzaga-Jauregui C, Sutton VR, Yesil G, Bozdogan ST, Tos T, Koparir A, Koparir E, Beck CR, Gu S, Aslan H, Yuregir OO, Al Rubeaan K, Alnaqeb D, Alshammari MJ, Bayram Y, Atik MM, Aydin H, Geckinli BB, Seven M, Ulucan H, Fenercioglu E, Ozen M, Jhangiani S, Muzny DM, Boerwinkle E, Tuysuz B, Alkuraya FS, Gibbs RA, Lupski JR
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2015 Feb; Vol. 125 (2), pp. 636-51. Date of Electronic Publication: 2015 Jan 09.
Publikováno v:
Inorganic Chemistry Frontiers; 10/7/2024, Vol. 11 Issue 19, p6476-6485, 10p
Autor:
Okamoto, Nobuhiko1 (AUTHOR) okamoto@osaka.email.ne.jp, Miya, Fuyuki2,3,4 (AUTHOR), Tsunoda, Tatsuhiko2,3,4 (AUTHOR), Kanemura, Yonehiro5,6 (AUTHOR), Saitoh, Shinji7 (AUTHOR), Kato, Mitsuhiro8 (AUTHOR), Yanagi, Kumiko9 (AUTHOR), Kaname, Tadashi9 (AUTHOR), Kosaki, Kenjiro10 (AUTHOR)
Publikováno v:
Neurological Sciences. Apr2022, Vol. 43 Issue 4, p2765-2774. 10p. 3 Black and White Photographs, 1 Chart.
Akademický článek
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Autor:
Ellis, Katherine1,2 (AUTHOR) k.r.ellis@bham.ac.uk, Moss, Jo1,2 (AUTHOR), Stefanidou, Chrysi1,3 (AUTHOR), Oliver, Chris1 (AUTHOR), Apperly, Ian1 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 11/22/2021, Vol. 16 Issue 1, p1-12. 12p.
Autor:
Mohajeri Khorasani A; Department of Medical Genetics, Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, 7916613885, Iran.; Molecular Medicine Research Center, Hormozgan Health Institute, Hormozgan University of Medical Sciences, Bandar Abbas, 7916613885, Iran.; Student Research Committee, Hormozgan University of Medical Sciences, Bandar Abbas, 7916613885, Iran., Raghibi A; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, 1416634793, Iran., Haj Mohammad Hassani B; Department of Medical Genetics, Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, 7916613885, Iran.; Molecular Medicine Research Center, Hormozgan Health Institute, Hormozgan University of Medical Sciences, Bandar Abbas, 7916613885, Iran.; Student Research Committee, Hormozgan University of Medical Sciences, Bandar Abbas, 7916613885, Iran., Bolbolizadeh P; Student Research Committee, Faculty of Para-Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, 7916613885, Iran., Amali A; School of Infection & Immunity, College of Medical, Veterinary & Life Sciences, University of Glasgow, Glasgow, G12 8QQ, UK., Sadeghi M; Department of Medical Genetics, Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, 7916613885, Iran.; Molecular Medicine Research Center, Hormozgan Health Institute, Hormozgan University of Medical Sciences, Bandar Abbas, 7916613885, Iran.; Student Research Committee, Hormozgan University of Medical Sciences, Bandar Abbas, 7916613885, Iran., Farshidi N; Department of Pharmaceutics, Faculty of Pharmacy, Hormozgan University of Medical Sciences, Bandar Abbas, 7916613885, Iran.; USERN Office, Hormozgan University of Medical Sciences, Bandar Abbas, 7916613885, Iran., Dehghani A; Endocrinology and Metabolism Research Center, Hormozgan University of Medical Sciences, Bandar Abbas, 7916613885, Iran., Mousavi P; Molecular Medicine Research Center, Hormozgan Health Institute, Hormozgan University of Medical Sciences, Bandar Abbas, 7916613885, Iran.
Publikováno v:
Advanced biology [Adv Biol (Weinh)] 2024 Aug 20, pp. e2300708. Date of Electronic Publication: 2024 Aug 20.
Autor:
Saima; Department of Biotechnology, Abdul Wali Khan University, Mardan, 23200, Khyber Pakhtunkhwa, Pakistan., Khan A; Department of Zoology, University of Lakki Marwat, Lakki, 28420, Khyber Pakhtunkhwa, Pakistan. amjadkhanqau123@hotmail.com.; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. amjadkhanqau123@hotmail.com.; Alexander Von Humboldt Fellowship Foundation, Berlin, Germany. amjadkhanqau123@hotmail.com., Ali S; Department of Biotechnology, Abdul Wali Khan University, Mardan, 23200, Khyber Pakhtunkhwa, Pakistan., Jiang J; School of Life Science and Technology, ShanghaiTech University, Shanghai, China.; Guangzhou National Laboratory, Guangzhou International Bio Island, Guangzhou, China., Miao Z; GMU-GIBH Joint School of Life Sciences, The Guangdong-Hong Kong-Macau Joint Laboratory for Cell Fate Regulation and Diseases, Guangzhou National Laboratory, Guangzhou Medical University, Guangzhou, China.; Shanghai Key Laboratory of Anesthesiology and Brain Functional Modulation, Clinical Research Center for Anesthesiology and Perioperative Medicine Translational Research Institute of Brain and Brain-Like Intelligence, Shanghai Fourth People's Hospital, School of Medicine, Tongji University, Shanghai, China., Kamil A; Department of Biotechnology, Abdul Wali Khan University, Mardan, 23200, Khyber Pakhtunkhwa, Pakistan.; Department of Internal Medicine, Brody Medicine School, East Carolina University, Greenville, NC, USA., Khan SN; Department of Zoology, Kohat University of Science & Technology, Kohat, 26000, Khyber Pakhtunkhwa, Pakistan., Arold ST; Biological and Environmental Science and Engineering Division, Computational Biology Research Center, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Kingdom of Saudi Arabia.
Publikováno v:
Neurogenetics [Neurogenetics] 2024 Jul; Vol. 25 (3), pp. 179-191. Date of Electronic Publication: 2024 May 25.