부산대학교 도서관

Scott, Eric M; Halees, Anason; Itan, Yuval; Spencer, Emily G; He, Yupeng; Azab, Mostafa Abdellateef; Gabriel, Stacey B; Belkadi, Aziz; Boisson, Bertrand; Abel, Laurent; Clark, Andrew G; Rahim, Sohair Abdel; Abdel-Hadi, Sawsan; Abdel-Salam, Ghada; Abdel-Salam, Ekram; Abdou, Mohammed; Abhytankar, Avinash; Adimi, Parisa; Ahmad, Jamil; Akcakus, Mustafa; Aksu, Guside; Hajjar, Sami Al; Juamaah, Suliman Al; Muhsen, Saleh Al; Sannaa, Nouriya Al; Tameni, Salem Al; Al-Aama, Jumana; Al-Allawi, Nasir; Al-Baradie, Raidah; Al-Gazali, Lihadh; Al-Hashem, Amal; Al-Herz, Waleed; Al-Jeaid, Deema; Al-Tawari, Asma; Alangari, Abdullah; Alcais, Alexandre; S AlFawaz, Tariq; Alsum, Zobaida; Ammar-Khodja, Aomar; Amouian, Sepideh; Arikan, Cigdem; Aryani, Omid; Aslanger, Ayca; Aydogmus, Cigdem; Aytekin, Caner; Azam, Matloob; Bansagi, Boglarka; Barbouche, Mohamed-Rhida; Bastaki, Laila; Ben-Omran, Tawfeg; Bindu, Parayil Sankaran; Blancas, Lizbeth; Boisson-Dupuis, Stéphanie; Bonnet, Damien; Stambouli, Omar Boudghene; Bousfiha, Aziz; Boussafara, Lobna; Boutros, Jeannette; Bustamante, Jacinta; Caksen, Huseyin; Camcioglu, Yildiz; Catherinot, Emilie; Celik, Fatma C; Ciancanelli, Michael; Cipe, Funda E; Clark, Gary; Cobat, Aurélie; Comu, Sinan; Condie, Angela; Condino-Neto, Antonio; Desai, Mukesh; Dobyns, William; Dogu, Figen; Domaia, Mohamed; Dorum, Meltem; Egritas, Odul; Azbaoui, Safa El; Baghdadi, Jamila El; Ruby, Mona El; El-Harouni, Ashraf; Elfeky, Reem A; Elghazali, Gehad; Faqeih, Eissa; Fenerci, Elif; Fieschi, Claire; Funda, Cipe; Gamal, Iman; Gelik, Umit; Genel, Fetah; Gezdirici, Alper; M Girisha, Katta; Goldstein, Amy; Grattan-Smith, Padraic; Gupta, Neerja; Hahn, Jin; Hatipoglu, Nevin; Hennekam, Raoul; Houshmand, Massoud; Ichai, Philippe; Ikinciogullari, Aydan; Ismail, Samira; Jalas, Chaim; Jouanguy, Emmanuelle; Kabra, Madhulika; Kalkan, Göknur; Kara, Majdi; Karaca, Neslihan; Karaer, Kadri; Kariminejad, Ariana; Kayserili, Hulya; Keser-Emiroglu, Melike; Kilic, Sara S; Kissani, Najib; Kokron, Cristina; Koul, Roshan; Kutukculer, Necil; Lanternier, Fanny; Mahdaviani, Alireza; Mahlaoui, Nizar; Mansour, Lobna; Mansouri, Davood; Margari, Lucia; Valente, Enza Maria; Marzouki, Naima; Masri, Amira; Megahed, Amina; Megahed, Hisham; Mekki, Najla; Mesdaghi, Mehrnaz; Mikati, Mohd; Mojahedi, Faezeh; Mulley, John; Nampoothiri, Sheela; Navarrete, Carmen; Omar, Tarek; Oraby, Azza; Pandaluz, Ayse; Parvaneh, Nima; Patiroglu, Turkan; Koc, Zeynep Peker; Pellier, Isabelle; Picard, Capucine; Puel, Anne; Raas-Rothschild, Annick; Rajab, Anna; Raoult, Didier; Reisli, Ismail; Rezaei, Nima; Sabri, Ayoub; Sahin, Yasin; Saleem, Laila; Salem, Fadia; AlSediq, Najla Sameer; Sanal, Ozden; Sanger, Terry; Shakankiry, Hanan; Shang, Lei; Shehata, Nabil; Shembesh, Nuri; Shkalim, Vared; Softah, Ameen; Sogaty, Sameera; Soliman, Neveen; Sonmez-Aunaci, Fatma; Sztriha, Laszlo; Taibi-Berrah, Lynda; Temtamy, Samia; Tonekaboni, Hasan; Trauner, Doris; Tuysuz, Beyhan; Varan, Ali; Vogt, Guillaume; Walsh, Christopher; Woods, Geoffrey; Yesil, Gozde; Yildiran, Alisan; Yildiz, Basak; Yuksel, Adnan; Zaki, Maha; Zhang, Shen-Ying; Alkuraya, Fowzan S; Casanova, Jean-Laurent; Gleeson, Joseph G

Nature Genetics. September, 2016, Vol. 48 Issue 9, p1071, 6 p.

Novarino, Gaia; El-Fishawy, Paul; Kayserili, Hulya; Meguid, Nagwa A; Scott, Eric M; Schroth, Jana; Silhavy, Jennifer L; Kara, Majdi; Khalil, Rehab O; Ben-Omran, Tawfeg; Ercan-Sencicek, A Gulhan; Hashish, Adel F; Sanders, Stephan J; Gupta, Abha R; Hashem, Hebatalla S; Matern, Dietrich; Gabriel, Stacey; Sweetman, Larry; Rahimi, Yasmeen; Harris, Robert A; State, Matthew W; Gleeson, Joseph G

Science, vol 338, iss 6105

Akizu N; 1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA. [3] Dorris Neuroscience Center, Scripps Research Institute, La Jolla, California, USA.; Cantagrel V; Institut Imagine, INSERM U1163, Hôpital Necker Enfants Malades, Paris, France.; Zaki MS; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.; Al-Gazali L; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, Abu Dhabi, United Arab Emirates.; Wang X; 1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.; Rosti RO; 1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.; Dikoglu E; 1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.; Gelot AB; 1] Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Département de Génétique, UF Génétique du Développement, Neuropathologie, Paris, France. [2] Institut de Neurobiologie de la Méditerranée (INMED) INSERM U901, Marseille, France.; Rosti B; 1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.; Vaux KK; 1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.; Scott EM; 1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.; Silhavy JL; 1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.; Schroth J; 1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.; Copeland B; 1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.; Schaffer AE; 1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.; Gordts PL; Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, California, USA.; Esko JD; Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, California, USA.; Buschman MD; Division of Endocrinology and Metabolism, Department of Medicine, University of California, San Diego, La Jolla, California, USA.; Field SJ; Division of Endocrinology and Metabolism, Department of Medicine, University of California, San Diego, La Jolla, California, USA.; Napolitano G; Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California, USA.; Abdel-Salam GM; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.; Ozgul RK; Pediatric Metabolism, Institute of Child Health, Hacettepe University, Ankara, Turkey.; Sagıroglu MS; Tübitak Bilgem Uekae, Gebze/Kocaeli, Turkey.; Azam M; Wah Medical College, Wah, Pakistan.; Ismail S; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.; Aglan M; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.; Selim L; Department of Pediatric Neurology, Children's Hospital, Cairo University, Cairo, Egypt.; Mahmoud IG; Department of Pediatric Neurology, Children's Hospital, Cairo University, Cairo, Egypt.; Abdel-Hadi S; Department of Pediatric Neurology, Children's Hospital, Cairo University, Cairo, Egypt.; Badawy AE; Department of Pediatric Neurology, Children's Hospital, Cairo University, Cairo, Egypt.; Sadek AA; Pediatric Neurology Department, Faculty of Medicine, Sohag University, Sohag, Egypt.; Mojahedi F; Mashhad Medical Genetic Counseling Center, Mashhad, Iran.; Kayserili H; Medical Genetics Department, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey.; Masri A; Division of Child Neurology, Department of Pediatrics, University of Jordan, Amman, Jordan.; Bastaki L; Kuwait Medical Genetics Centre, Maternity Hospital, Safat, Kuwait.; Temtamy S; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.; Müller U; Dorris Neuroscience Center, Scripps Research Institute, La Jolla, California, USA.; Desguerre I; Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris, France.; Casanova JL; 1] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA. [2] Génétique Humaine des Maladies Infectieuses, INSERM U1163, Université Paris Descartes, Institut Imagine, Paris, France. [3] St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.; Dursun A; Pediatric Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Gunel M; 1] Department of Neurosurgery, Yale University, School of Medicine, New Haven, Connecticut, USA. [2] Department of Neurobiology, Yale University, School of Medicine, New Haven, Connecticut, USA. [3] Department of Genetics, Yale University, School of Medicine, New Haven, Connecticut, USA.; Gabriel SB; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; de Lonlay P; Reference Center of Inherited Metabolic Diseases, Paris Descartes University, Necker Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Gleeson JG; 1] Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA. [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA. [3] New York Genome Center, New York, New York, USA.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Maffucci P; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.; Immunology Institute, Graduate School, Icahn School of Medicine at Mount Sinai, New York, NY 10029.; Department of Medicine, Division of Clinical Immunology, Icahn School of Medicine at Mount Sinai, New York, NY 10029.; Bigio B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75015 Paris, France.; Rapaport F; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.; Cobat A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75015 Paris, France.; Borghesi A; School of Life Sciences, Ecole Polytechnique Fédérale de Lausanne, 1015 Lausanne, Switzerland.; Lopez M; Human Evolutionary Genetics Unit, Pasteur Institute, 75015 Paris, France.; CNRS UMR2000, 75015 Paris, France.; Center of Bioinformatics, Biostatistics and Integrative Biology, Pasteur Institute, 75015 Paris, France.; Patin E; Human Evolutionary Genetics Unit, Pasteur Institute, 75015 Paris, France.; CNRS UMR2000, 75015 Paris, France.; Center of Bioinformatics, Biostatistics and Integrative Biology, Pasteur Institute, 75015 Paris, France.; Bolze A; Helix, San Carlos, CA 94070.; Shang L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.; Bendavid M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.; Scott EM; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093.; Stenson PD; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XW, United Kingdom.; Cunningham-Rundles C; Immunology Institute, Graduate School, Icahn School of Medicine at Mount Sinai, New York, NY 10029.; Department of Medicine, Division of Clinical Immunology, Icahn School of Medicine at Mount Sinai, New York, NY 10029.; Cooper DN; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XW, United Kingdom.; Gleeson JG; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093.; Howard Hughes Medical Institute, New York, NY 10065.; Fellay J; School of Life Sciences, Ecole Polytechnique Fédérale de Lausanne, 1015 Lausanne, Switzerland.; Quintana-Murci L; Human Evolutionary Genetics Unit, Pasteur Institute, 75015 Paris, France.; CNRS UMR2000, 75015 Paris, France.; Center of Bioinformatics, Biostatistics and Integrative Biology, Pasteur Institute, 75015 Paris, France.; Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065; casanova@rockefeller.edu yuval.itan@mssm.edu.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75015 Paris, France.; Howard Hughes Medical Institute, New York, NY 10065.; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, 75015 Paris, France.; Abel L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75015 Paris, France.; Boisson B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75015 Paris, France.; Itan Y; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065; casanova@rockefeller.edu yuval.itan@mssm.edu.; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029.

Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE