부산대학교 도서관

Calame, Daniel G. ; Wong, Jovi Huixin ; Panda, Puravi ; Nguyen, Dat Tuan ; Leong, Nancy C.P. ; Sangermano, Riccardo ; Patankar, Sohil G. ; Abdel-Hamid, Mohamed S. ; AlAbdi, Lama ; Safwat, Sylvia ; Flannery, Kyle P. ; Dardas, Zain ; Fatih, Jawid M. ; Murali, Chaya ; Kannan, Varun ; Lotze, Timothy E. ; Herman, Isabella ; Ammouri, Farah ; Rezich, Brianna ; Efthymiou, Stephanie ; Alavi, Shahryar ; Murphy, David ; Firoozfar, Zahra ; Nasab, Mahya Ebrahimi ; Bahreini, Amir ; Ghasemi, Majid ; Haridy, Nourelhoda A. ; Goldouzi, Hamid Reza ; Eghbal, Fatemeh ; Karimiani, Ehsan Ghayoor ; Begtrup, Amber ; Elloumi, Houda ; Srinivasan, Varunvenkat M. ; Gowda, Vykuntaraju K. ; Du, Haowei ; Jhangiani, Shalini N. ; Coban-Akdemir, Zeynep ; Marafi, Dana ; Rodan, Lance ; Isikay, Sedat ; Rosenfeld, Jill A. ; Ramanathan, Subhadra ; Staton, Michael ; Oberg, Kerby C. ; Clark, Robin D. ; Wenman, Catharina ; Loughlin, Sam ; Saad, Ramy ; Ashraf, Tazeen ; Male, Alison ; Tadros, Shereen ; Boostani, Reza ; Abdel-Salam, Ghada M.H. ; Zaki, Maha ; Mardi, Ali ; Hashemi-Gorji, Farzad ; Abdalla, Ebtesam ; Manzini, M. Chiara ; Pehlivan, Davut ; Posey, Jennifer E. ; Gibbs, Richard A. ; Houlden, Henry ; Alkuraya, Fowzan S. ; Bujakowska, Kinga ; Maroofian, Reza ; Lupski, James R. ; Nguyen, Long N.

In Genetics in Medicine January 2025 27(1)

Cerna-Chavez, Rodrigo; Ortega-Gasco, Alba; Baig, Hafiz Muhammad Azhar; Ehrenreich, Nathan; Metais, Thibaud; Scandura, Michael J.; Bujakowska, Kinga; Pierce, Eric A.; Garita-Hernandez, Marcela

International Journal of Molecular Sciences. Jan2025, Vol. 26 Issue 1, p114. 27p.

Farkas, Michael H. ; Lew, Deborah S. ; Sousa, Maria E. ; Bujakowska, Kinga ; Chatagnon, Jonathan ; Bhattacharya, Shomi S. ; Pierce, Eric A. ; Nandrot, Emeline F.

In The American Journal of Pathology October 2014 184(10):2641-2652

Nassisi, Marco; De Bartolo, Giuseppe; Mohand-Said, Saddek; Condroyer, Christel; Antonio, Aline; Lancelot, Marie-Elise; Bujakowska, Kinga; Smirnov, Vasily; Pugliese, Thomas; Neidhardt, John; Sahel, José-Alain; Zeitz, Christina; Audo, Isabelle

International Journal of Molecular Sciences. Jul2022, Vol. 23 Issue 13, p7189-N.PAG. 17p.

Chakarova, Christina F. ; Papaioannou, Myrto G. ; Khanna, Hemant ; Lopez, Irma ; Waseem, Naushin ; Shah, Amna ; Theis, Torsten ; Friedman, James ; Maubaret, Cecilia ; Bujakowska, Kinga ; Veraitch, Brotati ; El-Aziz, Mai M. Abd ; Prescott, De Quincy ; Parapuram, Sunil K. ; Bickmore, Wendy A. ; Munro, Peter M.G. ; Gal, Andreas ; Hamel, Christian P. ; Marigo, Valeria ; Ponting, Chris P. ; Wissinger, Bernd ; Zrenner, Eberhart ; Matter, Karl ; Swaroop, Anand ; Koenekoop, Robert K. ; Bhattacharya, Shomi S.

In The American Journal of Human Genetics 2007 81(5):1098-1103

Zeitz, Christina ; Jacobson, Samuel G. ; Hamel, Christian P. ; Bujakowska, Kinga ; Neuillé, Marion ; Orhan, Elise ; Zanlonghi, Xavier ; Lancelot, Marie-Elise ; Michiels, Christelle ; Schwartz, Sharon B. ; Bocquet, Béatrice ; Antonio, Aline ; Audier, Claire ; Letexier, Mélanie ; Saraiva, Jean-Paul ; Luu, Tien D. ; Sennlaub, Florian ; Nguyen, Hoan ; Poch, Olivier ; Dollfus, Hélène ; Lecompte, Odile ; Kohl, Susanne ; Sahel, José-Alain ; Bhattacharya, Shomi S. ; Audo, Isabelle

In The American Journal of Human Genetics 10 January 2013 92(1):67-75

Audo, Isabelle ; Bujakowska, Kinga ; Orhan, Elise ; Poloschek, Charlotte M. ; Defoort-Dhellemmes, Sabine ; Drumare, Isabelle ; Kohl, Susanne ; Luu, Tien D. ; Lecompte, Odile ; Zrenner, Eberhart ; Lancelot, Marie-Elise ; Antonio, Aline ; Germain, Aurore ; Michiels, Christelle ; Audier, Claire ; Letexier, Mélanie ; Saraiva, Jean-Paul ; Leroy, Bart P. ; Munier, Francis L. ; Mohand-Saïd, Saddek ; Lorenz, Birgit ; Friedburg, Christoph ; Preising, Markus ; Kellner, Ulrich ; Renner, Agnes B. ; Moskova-Doumanova, Veselina ; Berger, Wolfgang ; Wissinger, Bernd ; Hamel, Christian P. ; Schorderet, Daniel F. ; De Baere, Elfride ; Sharon, Dror ; Banin, Eyal ; Jacobson, Samuel G. ; Bonneau, Dominique ; Zanlonghi, Xavier ; Le Meur, Guylene ; Casteels, Ingele ; Koenekoop, Robert ; Long, Vernon W. ; Meire, Francoise ; Prescott, Katrina ; de Ravel, Thomy ; Simmons, Ian ; Nguyen, Hoan ; Dollfus, Hélène ; Poch, Olivier ; Léveillard, Thierry ; Nguyen-Ba-Charvet, Kim ; Sahel, José-Alain ; Bhattacharya, Shomi S. ; Zeitz, Christina

In The American Journal of Human Genetics 10 February 2012 90(2):321-330

Neuillé, Marion; El Shamieh, Said; Orhan, Elise; Michiels, Christelle; Antonio, Aline; Lancelot, Marie-Elise; Condroyer, Christel; Bujakowska, Kinga; Poch, Olivier; Sahel, José-Alain; Audo, Isabelle; Zeitz, Christina

PLoS ONE. Mar2014, Vol. 9 Issue 3, p1-13. 13p.

Aidoudi, Sallouha; Bujakowska, Kinga; Kieffer, Nelly; Bikfalvi, Andreas

PLoS ONE. 2008, Vol. 3 Issue 7, p1-14. 14p. 1 Color Photograph, 1 Black and White Photograph, 5 Graphs.

Audo, Isabelle ; Kohl, Susanne ; Leroy, Bart P. ; Munier, Francis L. ; Guillonneau, Xavier ; Mohand-Saïd, Saddek ; Bujakowska, Kinga ; Nandrot, Emeline F. ; Lorenz, Birgit ; Preising, Markus ; Kellner, Ulrich ; Renner, Agnes B. ; Bernd, Antje ; Antonio, Aline ; Moskova-Doumanova, Veselina ; Lancelot, Marie-Elise ; Poloschek, Charlotte M. ; Drumare, Isabelle ; Defoort-Dhellemmes, Sabine ; Wissinger, Bernd ; Léveillard, Thierry ; Hamel, Christian P. ; Schorderet, Daniel F. ; De Baere, Elfride ; Berger, Wolfgang ; Jacobson, Samuel G. ; Zrenner, Eberhart ; Sahel, José-Alain ; Bhattacharya, Shomi S. ; Zeitz, Christina

In The American Journal of Human Genetics 13 November 2009 85(5):720-729

Scott, Hilary; Place, Emily; Harper, Evelyn; Valestil, Kevin; Mehrotra, Sudeep; Huckfeldt, Rachel; Comander, Jason; Pierce, Eric; Bujakowska, Kinga

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; JUN 2023, 64 8, 3p.

Weener, Marianna; Scott, Hilary; Place, Emily; Sanderson, Kit; Valestil, Kevin; Straubhaar, Juerg; Bujakowska, Kinga; Pierce, Eric

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; JUN 2023, 64 8, 3p.

DiFranco, Carol; Comander, Jason; Sanderson, Kit; Place, Emily; Maher, Matthew; Zampaglione, Erin; Zhao, Yan; Huckfeldt, Rachel; Bujakowska, Kinga; Pierce, Eric

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; JUN 2023, 64 8, 3p.

Okur, Volkan; Cho, Megan T.; van Wijk, Richard; van Oirschot, Brigitte; Picker, Jonathan; Coury, Stephanie A.; Grange, Dorothy; Manwaring, Linda; Krantz, Ian; Muraresku, Colleen Clark; Hulick, Peter J.; May, Holley; Pierce, Eric; Place, Emily; Bujakowska, Kinga; Telegrafi, Aida; Douglas, Ganka; Monaghan, Kristin G.; Begtrup, Amber; Wilson, Ashley; Retterer, Kyle; Anyane-Yeboa, Kwame; Chung, Wendy K.

European Journal of Human Genetics. 27(7):1081-1089

Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Wong JH; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228.; Panda P; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228.; Nguyen DT; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228.; Leong NCP; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228.; Sangermano R; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.; Patankar SG; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.; Abdel-Hamid M; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; AlAbdi L; Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Safwat S; Department of Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Flannery KP; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, NY, USA.; Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Murali C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Kannan V; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Lotze TE; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Boys Town National Research Hospital, Boys Town, NE, USA.; Ammouri F; Boys Town National Research Hospital, Boys Town, NE, USA.; The University of Kansas Health System, Westwood, KS, USA.; Rezich B; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA.; Efthymiou S; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK.; Alavi S; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, United Kingdom.; Firoozfar Z; Palindrome, Isfahan, Iran.; Nasab ME; Meybod Genetic Research Center, Yazd, Iran.; Yazd Welfare Organization, Yazd, Iran.; Bahreini A; KaryoGen, Isfahan, Iran.; Department of Human Genetics, University of Pittsburgh, PA, USA.; Ghasemi M; Department of Neurology, Isfahan University of Medical Sciences, Isfahan, Iran.; Haridy NA; Department of Neurology, Faculty of Medicine, Assiut University, Assiut, Egypt.; Goldouzi HR; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Eghbal F; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Karimiani EG; Molecular and Clinical Sciences Institute, St George's, University of London, Cranmer Terrace London, London, UK.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait.; Rodan L; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Isikay S; Gaziantep Islam Science and Technology University, Medical Faculty, Department of Pediatric Neurology, Gaziantep, Turkey.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratories, Houston, TX, USA.; Ramanathan S; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA.; Staton M; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA.; Kerby C Oberg; Department of Pathology and Human Anatomy, Loma Linda University School of Medicine, Loma Linda, CA, USA.; Clark RD; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA.; Wenman C; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3BH, UK.; Loughlin S; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3BH, UK.; Saad R; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Ashraf T; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Male A; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Tadros S; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Boostani R; Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran.; Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; Zaki M; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; Abdalla E; Department of Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Manzini MC; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, NY, USA.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Houlden H; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Bujakowska K; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.; Maroofian R; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK.; Lupski JR; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Nguyen LN; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228.; Immunology Program, Life Sciences Institute, National University of Singapore, Singapore 117456.; Singapore Lipidomics Incubator (SLING), Life Sciences Institute, National University of Singapore, Singapore 117456.; Cardiovascular Disease Research (CVD) Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117545.; Immunology Translational Research Program, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117456.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Audo, Isabelle; Kohl, Susanne; Leroy, Bart P.; Munier, Francis L.; Guillonneau, Xavier;; Mohand-Said, Saddek; Bujakowska, Kinga; Nandrot, Emeline F.; Lorenz, Birgit; Preising, Markus; Kellner, Ulrich; Renner, Agnes B.; Bernd, Antje; Antonio, Aline; Moskova-Doumanova, Veselina; Lancelot, Marie-Elise; Poloschek, Charlotte M.; Drumare, Isabelle; Defoort-Dhellemmes, Sabine; Wissinger, Bernd; Leveillard, Thierry; Hamel, Christian P.; Schorderet, Daniel F.; De Baere, Elfride; Berger, Wolfgang; Jacobson, Samuel G.; Zrenner, Eberhart; Sahel, Jose-Alain; Bhattacharya, Shomi S.; Zeitz, Christina

American Journal of Human Genetics. Nov 13, 2009, Vol. 85 Issue 5, p720, 10 p.

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; El Shamieh, Said; Sennlaub, Florian; Guillonneau, Xavier; Antonio, Aline; Michiels, Christelle; Lancelot, Marie-Elise; Letexier, Melanie; Saraiva, Jean-Paul; Nguyen, Hoan; Luu, Tien D.; Léveillard, Thierry; Poch, Olivier; Dollfus, Hélène; Paques, Michel; Goureau, Olivier; Mohand-Saïd, Saddek; Bhattacharya, Shomi S.; Sahel, José-Alain; Zeitz, Christina

Human Molecular Genetics. Jan 15, 2014 23(2):491-501

Bujakowska, Kinga; Audo, Isabelle; Mohand-Saïd, Saddek; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Léveillard, Thierry; Letexier, Mélanie; Saraiva, Jean-Paul; Lonjou, Christine; Carpentier, Wassila; Sahel, José-Alain; Bhattacharya, Shomi S.; Zeitz, Christina

Human Mutation. Feb 01, 2012 33(2):306-315

Audo, Isabelle; Bujakowska, Kinga; Mohand-Saïd, Saddek; Lancelot, Marie-Elise; Moskova-Doumanova, Veselina; Waseem, Naushin H.; Antonio, Aline; Sahel, José-Alain; Bhattacharya, Shomi S.; Zeitz, Christina

BMC Medical Genetics. 2010, Vol. 11, p145-153. 9p.

Stenton, Sarah; Laricchia, Kristen M.; Chaluvadi, Sushma; Lake, Nicole J.; Lek, Monkol; Fleming, Mark; Campagna, Dean; Pierce, Eric; Bujakowska, Kinga; Place, Emily; Rehm, Heidi; O'Donnell-Luria, Anne

EUROPEAN JOURNAL OF HUMAN GENETICS; JAN 2024, 32 p20-p21, 2p. Supplement: 1