부산대학교 도서관

Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, El-Tahrir Street, Dokki, Cairo, 12311, Egypt. dr_mahazaki@yahoo.com.; Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, El-Tahrir Street, Dokki, Cairo, 12311, Egypt.; Thomas MM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, El-Tahrir Street, Dokki, Cairo, 12311, Egypt.; Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, El-Tahrir Street, Dokki, Cairo, 12311, Egypt.; Rafat K; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, El-Tahrir Street, Dokki, Cairo, 12311, Egypt.; Al Menabawy NM; Neurology and Metabolic Division, Cairo University Children Hospital, Cairo, Egypt.; Selim LA; Neurology and Metabolic Division, Cairo University Children Hospital, Cairo, Egypt.; Ismail S; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, El-Tahrir Street, Dokki, Cairo, 12311, Egypt.; Abdel-Salam GM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, El-Tahrir Street, Dokki, Cairo, 12311, Egypt.; Gleeson JG; Department of Neurosciences, University of California and Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego, La Jolla, CA, 92093, USA.

Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

Crow, Yanick J; Chase, Diana S; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M A; Gornall, Hannah L; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel-Hamid, Mohamed S; Abdel-Salam, Ghada M; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Catherine; Allon-Shalev, Stavit; Arellano, Montse; Ariaudo, Giada; Aswani, Vijay; Babul-Hirji, Riyana; Baildam, Eileen M; Bahi-Buisson, Nadia; Bailey, Kathryn M; Barnerias, Christine; Barth, Magalie; Battini, Roberta; Beresford, Michael W; Bernard, Geneviève; Bianchi, Marika; Billette de Villemeur, Thierry; Blair, Edward M; Bloom, Miriam; Burlina, Alberto B; Carpanelli, Maria Luisa; Carvalho, Daniel R; Castro-Gago, Manuel; Cavallini, Anna; Cereda, Cristina; Chandler, Kate E; Chitayat, David A; Collins, Abigail E; Sierra Corcoles, Concepcion; Cordeiro, Nuno J V; Crichiutti, Giovanni; Dabydeen, Lyvia; Dale, Russell C; D'Arrigo, Stefano; De Goede, Christian G E L; De Laet, Corinne; De Waele, Liesbeth M H; Denzler, Ines; Desguerre, Isabelle; Devriendt, Koenraad; Di Rocco, Maja; Fahey, Michael C; Fazzi, Elisa; Ferrie, Colin D; Figueiredo, António; Gener, Blanca; Goizet, Cyril; Gowrinathan, Nirmala R; Gowrishankar, Kalpana; Hanrahan, Donncha; Isidor, Bertrand; Kara, Bülent; Khan, Nasaim; King, Mary D; Kirk, Edwin P; Kumar, Ram; Lagae, Lieven; Landrieu, Pierre; Lauffer, Heinz; Laugel, Vincent; La Piana, Roberta; Lim, Ming J; Lin, Jean-Pierre S-M; Linnankivi, Tarja; Mackay, Mark T; Marom, Daphna R; Marques Lourenço, Charles; McKee, Shane A; Moroni, Isabella; Morton, Jenny E V; Moutard, Marie-Laure; Murray, Kevin; Nabbout, Rima; Nampoothiri, Sheela; Nunez-Enamorado, Noemi; Oades, Patrick J; Olivieri, Ivana; Ostergaard, John R; Pérez-Dueñas, Belén; Prendiville, Julie S; Ramesh, Venkateswaran; Rasmussen, Magnhild; Régal, Luc; Ricci, Federica; Rio, Marlène; Rodriguez, Diana; Roubertie, Agathe; Salvatici, Elisabetta; Segers, Karin A; Sinha, Gyanranjan P; Soler, Doriette; Spiegel, Ronen; Stödberg, Tommy I; Straussberg, Rachel; Swoboda, Kathryn J; Suri, Mohnish; Tacke, Uta; Tan, Tiong Y; te Water Naude, Johann; Wee Teik, Keng; Thomas, Maya Mary; Till, Marianne; Tonduti, Davide; Valente, Enza Maria; Van Coster, Rudy Noel; van der Knaap, Marjo S; Vassallo, Grace; Vijzelaar, Raymon; Vogt, Julie; Wallace, Geoffrey B; Wassmer, Evangeline; Webb, Hannah J; Whitehouse, William P; Whitney, Robyn N; Zaki, Maha S; Zuberi, Sameer M; Livingston, John H; Rozenberg, Flore; Lebon, Pierre; Vanderver, Adeline; Orcesi, Simona; Rice, Gillian I; D Arrigo, Stefano

AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Crow, Y J, Chase, D S, Schmidt, J L, Szynkiewicz, M, Forte, G M A, Gornall, H L, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-Hamid, M S, Abdel-Salam, G M, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, E M, Bahi-Buisson, N, Bailey, K M, Barnerias, C, Barth, M, Battini, R, Beresford, M W, Bernard, G, Bianchi, M, de Villemeur, T B, Blair, E M, Bloom, M, Burlina, A B, Carpanelli, M L, Carvalho, D R, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, K E, Chitayat, D A, Collins, A E, Corcoles, C S, Cordeiro, N J V, Crichiutti, G, Dabydeen, L, Dale, R C, D'Arrigo, S, De Goede, C G E L, de Laet, C, De Waele, L M H, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, M C, Fazzi, E, Ferrie, C D, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, N R, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, L, Khan, N, King, M D, Kirk, E P, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, M J, Lin, J P S M, Linnankivi, T, Mackay, M T, Marom, D R, Lourenco, C M, McKee, S A, Moroni, I, Morton, J E V, Moutard, M L, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, P J, Olivieri, I, Ostergaard, J R, Perez-Duenas, B, Prendiville, J S, Ramesh, V, Rasmussen, M, Regal, L, Ricci, F, Rio, M, Knaap, M, Orcesi, S & Rice, G I 2015, 'Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1', American Journal of Medical Genetics Part A, vol. 167, no. 2, pp. 296-312. https://doi.org/10.1002/ajmg.a.36887
Crow, Y J, Chase, D S, Lowenstein Schmidt, J, Szynkiewicz, M, Forte, G M A, Gornall, H L, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-Hamid, M S, Abdel-Salam, G M, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, E M, Bahi-Buisson, N, Bailey, K M, Barnerias, C, Barth, M, Battini, R, Beresford, M W, Bernard, G, Bianchi, M, Billette de Villemeur, T, Blair, E M, Bloom, M, Burlina, A B, Carpanelli, M L, Carvalho, D R, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, K E, Chitayat, D A, Collins, A E, Sierra Corcoles, C, Cordeiro, N J V, Crichiutti, G, Dabydeen, L, Dale, R C, D'Arrigo, S, De Goede, C G E L, De Laet, C, De Waele, L M H, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, M C, Fazzi, E, Ferrie, C D, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, N R, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, B, Khan, N, King, M D, Kirk, E P, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, M J, Lin, J-P S-M, Linnankivi, T, Mackay, M T, Marom, D R, Marques Lourenço, C, McKee, S A, Moroni, I, Morton, J E V, Moutard, M-L, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, P J, Olivieri, I, Ostergaard, J R, Pérez-Dueñas, B, Prendiville, J S, Ramesh, V, Rasmussen, M, Régal, L, Ricci, F, Rio, M, Rodriguez, D, Roubertie, A, Salvatici, E, Segers, K A, Sinha, G P, Soler, D, Spiegel, R, Stödberg, T I, Straussberg, R, Swoboda, K J, Suri, M, Tacke, U, Tan, T Y, te Water Naude, J, Wee Teik, K, Thomas, M M, Till, M, Tonduti, D, Valente, E M, Van Coster, R N, van der Knaap, M S, Vassallo, G, Vijzelaar, R, Vogt, J, Wallace, G B, Wassmer, E, Webb, H J, Whitehouse, W P, Whitney, R N, Zaki, M S, Zuberi, S M, Livingston, J H, Rozenberg, F, Lebon, P, Vanderver, A, Orcesi, S, Rice, G I & D Arrigo, S 2015, 'Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.', American Journal of Medical Genetics. Part A, vol. 167A, no. 2. https://doi.org/10.1002/ajmg.a.36887
Crow, Y J, Chase, D S, Lowenstein Schmidt, J, Szynkiewicz, M, Forte, G M A, Gornall, H L, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-Hamid, M S, Abdel-Salam, G M, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, E M, Bahi-Buisson, N, Bailey, K M, Barnerias, C, Barth, M, Battini, R, Beresford, M W, Bernard, G, Bianchi, M, Billette de Villemeur, T, Blair, E M, Bloom, M, Burlina, A B, Carpanelli, M L, Carvalho, D R, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, K E, Chitayat, D A, Collins, A E, Sierra Corcoles, C, Cordeiro, N J V, Crichiutti, G, Dabydeen, L, Dale, R C, D'Arrigo, S, De Goede, C G E L, De Laet, C, De Waele, L M H, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, M C, Fazzi, E, Ferrie, C D, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, N R, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, B, Khan, N, King, M D, Kirk, E P, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, M J, Lin, J-P S-M, Linnankivi, T, Mackay, M T, Marom, D R, Marques Lourenço, C, McKee, S A, Moroni, I, Morton, J E V, Moutard, M-L, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, P J, Olivieri, I, Ostergaard, J R, Pérez-Dueñas, B, Prendiville, J S, Ramesh, V, Rasmussen, M, Régal, L, Ricci, F, Rio, M, Rodriguez, D, Roubertie, A, Salvatici, E, Segers, K A, Sinha, G P, Soler, D, Spiegel, R, Stödberg, T I, Straussberg, R, Swoboda, K J, Suri, M, Tacke, U, Tan, T Y, te Water Naude, J, Wee Teik, K, Thomas, M M, Till, M, Tonduti, D, Valente, E M, Van Coster, R N, van der Knaap, M S, Vassallo, G, Vijzelaar, R, Vogt, J, Wallace, G B, Wassmer, E, Webb, H J, Whitehouse, W P, Whitney, R N, Zaki, M S, Zuberi, S M, Livingston, J H, Rozenberg, F, Lebon, P, Vanderver, A, Orcesi, S & Rice, G I 2015, 'Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1', American Journal of Medical Genetics-Part A, vol. 167A, no. 2, pp. 296-312. https://doi.org/10.1002/ajmg.a.36887
American Journal of Medical Genetics, Part A

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

Abdel-Salam GM; Clinical Genetics Department, Human Genetics and Genome Research Unit, National Research Center, Tahrir Street, Dokki, Cairo, Egypt. Tel/Fax. +20 (2) 5685026. E-mail: ghasala@hotmail.com / ghada.abdelsalam@gmail.com.; Shahab MI; Galal AH; Abdel-Kader AA; Fateen E

Publisher: Armed Forces Hospital Country of Publication: Saudi Arabia NLM ID: 101252453 Publication Model: Print Cited Medium: Print ISSN: 1319-6138 (Print) Linking ISSN: 13196138 NLM ISO Abbreviation: Neurosciences (Riyadh) Subsets: PubMed not MEDLINE

Abdel-Salam GM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, El-Tahrir Street, Dokki, Cairo, Egypt. Tel. +202 5685026. E-mail: ghasala@hotmail.com.; Zaki MS

Publisher: Armed Forces Hospital Country of Publication: Saudi Arabia NLM ID: 101252453 Publication Model: Print Cited Medium: Print ISSN: 1319-6138 (Print) Linking ISSN: 13196138 NLM ISO Abbreviation: Neurosciences (Riyadh) Subsets: PubMed not MEDLINE