부산대학교 도서관

Weerts, Marjolein J. A.; Lanko, Kristina; Guzman-Vega, Francisco J.; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londono, Kelly J.; Pena-Guerra, Karla A.; van Bever, Yolande; van Paassen, Barbara W.; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M.; Kehoe, Caroline M.; Robinson, Hannah K.; Pang, Lewis; Banu, Selina H.; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Jarvela, Irma; Lauronen, Leena; Maatta, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M.; Ruivenkamp, Claudia A. L.; Barge-Schaapveld, Daniela Q. C. M.; Peeters-Scholte, Cacha M. P. C. D.; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M.; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K.; Lupski, James R.; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt, J. Lawrence, II; Mirzaa, Ghayda M.; Timms, Andrew E.; Scheck, Joshua; Elting, Mariet W.; Polstra, Abeltje M.; Schenck, Lauren; Ruzhnikov, Maura R. Z.; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C.; Mosher, Theresa Mihalic; Pastore, Matthew T.; McBride, Kim L.; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D.; de Vries, Bert B. A.; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R.; Klemp, Kara C.; Vansenne, Fleur; van Gijn, Marielle E.; Quindipan, Catherine; Deardorff, Matthew A.; Hamm, J. Austin; Putnam, Abbey M.; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A.; Baptista, Julia; Person, Richard E.; Monaghan, Kristin G.; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T.; Barakat, Tahsin Stefan; Genomics England Res

GENETICS IN MEDICINE; AUG 3 2021, 16p.

Aboheimed GI; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia; Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Kingdom of Saudi Arabia; Department of Pharmacology, The School of Pharmacy, University College London, London, United Kingdom.; AlRasheed MM; Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Kingdom of Saudi Arabia.; Almudimeegh S; Department of Pharmacology, The School of Pharmacy, University College London, London, United Kingdom; Department of Pharmacology and Toxicology, College of Pharmacy, King Saud University, Riyadh, Kingdom of Saudi Arabia.; Peña-Guerra KA; Computational Bioscience Research Center, King Abdullah University of Science and Technology, Thuwal, Kingdom of Saudi Arabia.; Cardona-Londoño KJ; Computational Bioscience Research Center, King Abdullah University of Science and Technology, Thuwal, Kingdom of Saudi Arabia.; Salih MA; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia.; Seidahmed MZ; Department of Pediatrics, Security Forces Hospital, Riyadh, Kingdom of Saudi Arabia.; Al-Mohanna F; Department of Cell Biology, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Colak D; Department of Molecular Oncology, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Harvey RJ; School of Health and Behavioural Sciences, University of the Sunshine Coast, Maroochydore, Queensland, Australia; Sunshine Coast Health Institute, Birtinya, Queensland, Australia.; Harvey K; Department of Pharmacology, The School of Pharmacy, University College London, London, United Kingdom.; Arold ST; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, Montpellier, France.; Kaya N; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia. Electronic address: nkaya@kfshrc.edu.sa.; Ruiz AJ; Department of Pharmacology, The School of Pharmacy, University College London, London, United Kingdom. Electronic address: a.ruiz@ucl.ac.uk.

Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

Astro, V.; Ramirez-Calderon, G.; Pennucci, R.; Cardona-Londoño, K.; Fiacco, E.; Maksoud, F.; Alowaysi, M.; Sogne, E.; Falqui, A.; Adamo, A.; Caroli, J.; Mattevi, A.; Saera-Vila, A.; Forastieri, C.; Battaglioli, E.; Gonzàlez, F.; Montserrat, N.

In: iScience. (iScience, 15 July 2022, 25(7))

Medico Salsench E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Deng R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Nikoncuk A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Pérez B; Centro de Diagnóstico de Enfermedades Moleculares. Centro de Biología Molecular, Universidad Autonoma de Madrid, CIBER Enfermedades Raras, IdiPAZ, Madrid, Spain.; Sánchez-Lijarcio O; Centro de Diagnóstico de Enfermedades Moleculares. Centro de Biología Molecular, Universidad Autonoma de Madrid, CIBER Enfermedades Raras, IdiPAZ, Madrid, Spain.; Ibáñez-Mico S; Pediatric Neurology Unit, Arrixaca Universitary Hospital, Murcia, Spain.; Wojcik A; Gillette Children's Specialty Healthcare, St. Paul, MN 55101, USA.; Vargas M; Gillette Children's Specialty Healthcare, St. Paul, MN 55101, USA.; Abbas Al-Sannaa N; John Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia.; Girgis MY; Pediatric Department, Children's Hospital, Cairo University, Cairo, Egypt.; Silveira TRD; CENTOGENE, GmbH, 18055 Rostock, Germany.; Bauer P; CENTOGENE, GmbH, 18055 Rostock, Germany.; Schroeder A; Division of Medical Genetics, University of Rochester Medical Center, Rochester, NY 14642, USA.; Fong CT; Departments of Pediatrics and of Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA.; Begtrup A; GeneDx, Gaithersburg, MD 20877, USA.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.; Toosi MB; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Ashrafzadeh F; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Imannezhad S; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Doosti M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Ahangari N; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Najarzadeh Torbati P; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Ghayoor Karimiani E; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Molecular and Clinical Sciences Institute, St. George's, University of London, London SW17 0RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, UK.; Cali E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Kaya IH; College of Medicine, AlFaisal University, Riyadh, Kingdom of Saudi Arabia.; AlMuhaizea M; College of Medicine, AlFaisal University, Riyadh, Kingdom of Saudi Arabia.; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Kingdom of Saudi Arabia.; Colak D; Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, Kingdom of Saudi Arabia.; Cardona-Londoño KJ; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia.; Arold ST; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia.; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, 34090 Montpellier, France.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Bertoli-Avella A; CENTOGENE, GmbH, 18055 Rostock, Germany.; Kaya N; Department of Translational Genomics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Kingdom of Saudi Arabia.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Weerts, Marjolein J. A.; Lanko, Kristina; Guzman-Vega, Francisco J.; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londono, Kelly J.; Pena-Guerra, Karla A.; van Bever, Yolande; van Paassen, Barbara W.; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M.; Kehoe, Caroline M.; Robinson, Hannah K.; Pang, Lewis; Banu, Selina H.; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Jarvela, Irma; Lauronen, Leena; Maatta, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M.; Ruivenkamp, Claudia A. L.; Barge-Schaapveld, Daniela Q. C. M.; Peeters-Scholte, Cacha M. P. C.; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M.; Harrison, Victoria; Maroofian, Reza; Banka, Siddharth; Sadikovic, Bekim; Arold, Stefan T.; Barakat, Tahsin Stefan

EUROPEAN JOURNAL OF HUMAN GENETICS; APR 2022, 30 SUPPL 1, p251-p252, 2p. Supplement: 1

Weerts , M J A , Lanko , K , Genomics England Research Consortium , Guzmán-Vega , F J , Jackson , A , Ramakrishnan , R , Cardona-Londoño , K J , Peña-Guerra , K A , van Bever , Y , van Paassen , B W , Kievit , A , van Slegtenhorst , M , Allen , N M , Kehoe , C M , Robinson , H K , Pang , L , Banu , S H , Zaman , M , Efthymiou , S , Houlden , H , Järvelä , I , Lauronen , L , Määttä , T , Schrauwen , I , Leal , S M , Ruivenkamp , C A L , Barge-Schaapveld , D Q C M , Peeters-Scholte , C M P C D , Galehdari , H , Mazaheri , N , Sisodiya , S M , Harrison , V , Sun , A , Thies , J , Pedroza , L A , Lara-Taranchenko , Y , Chinn , I K , Lupski , J R , Garza-Flores , A , McGlothlin , J , Yang , L , Huang , S , Wang , X , Jewett , T , Rosso , G , Lin , X , Mohammed , S , Merritt , J L , Willemsen , M , Gilissen , C & Barakat , T S 2021 , ' Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome ' , Genetics in Medicine , vol. 23 , no. 11 , pp. 2122-2137 .

Medico Salsench , E , Maroofian , R , Deng , R , Lanko , K , Nikoncuk , A , Pérez , B , Sánchez-Lijarcio , O , Ibáñez-Mico , S , Wojcik , A , Vargas , M , Abbas Al-Sannaa , N , Girgis , M Y , Silveira , T R D , Bauer , P , Schroeder , A , Fong , C T , Begtrup , A , Babaei , M , Toosi , M B , Ashrafzadeh , F , Imannezhad , S , Doosti , M , Ahangari , N , Najarzadeh Torbati , P , Ghayoor Karimiani , E , Murphy , D , Cali , E , Kaya , I H , Almuhaizea , M , Colak , D , Cardona-Londoño , K J , Arold , S T , Houlden , H , Bertoli-Avella , A , Kaya , N & Barakat , T S 2021 , ' Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder ' , Brain , vol. 144 , no. 10 , e86 .

Genetics in Medicine; 2122; 2137; 1098-3600; 11; 23; ~Genetics in Medicine~2122~2137~~~1098-3600~11~23~~

Genetics in Medicine; 2122; 2137; 1098-3600; 11; 23; ~Genetics in Medicine~2122~2137~~~1098-3600~11~23~~