부산대학교 도서관

Juliá-Palacios N; Department of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Muñoz-Pujol G; Biochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, WC1N 3GB London, United Kingdom.; Bertoli-Avella AM; Medical Genetics and Reporting, CENTOGENE GmbH, 18055 Rostock, Germany.; Gómez-Chiari M; Department of Diagnostic Imaging, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Muchart-López J; Department of Diagnostic Imaging, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Paredes-Fuentes AJ; Biochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; O'Callaghan M; Department of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Machado-Casas IS; Neuropediatrics and Neurodevelopment Unit, Hospital Universitario Clínico San Cecilio, 18007 Granada, Spain.; Cristian I; Division of Genetics, Arnold Palmer Hospital for Children, 32806 Orlando, FL, USA.; Morrison J; Division of Genetics, Arnold Palmer Hospital for Children, 32806 Orlando, FL, USA.; Garcia-Cazorla A; Department of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Neurometabolism and Synaptic Metabolism Lab, Department of Neurology and MetabERN, Hospital Sant Joan de Deu, 08950 Barcelona, Spain.; Codina A; Applied Research in Neuromuscular Diseases, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, 1985717413 Tehran, Iran.; Zonic E; Medical Genetics and Reporting, CENTOGENE GmbH, 18055 Rostock, Germany.; Bauer P; Medical Genetics and Reporting, CENTOGENE GmbH, 18055 Rostock, Germany.; Cheema H; Pediatric Department of Gastroenterology, Children's Hospital of Lahore, 54000 Lahore, Pakistan.; Anjum MN; Pediatric Department of Gastroenterology, Children's Hospital of Lahore, 54000 Lahore, Pakistan.; Al-Sannaa N; Johns Hopkins Aramco Health Care, 34465 Dhahran, Saudi Arabia.; Abd Elmaksoud M; Department of Pediatrics, Neurology Unit, Faculty of Medicine, Alexandria University, 21526 Alexandria, Egypt.; Ababneh F; Department of Genetics and Precision Medicine, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, 11481 Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, 11481 Riyadh, Saudi Arabia.; Alijanpour S; Department of Genetics, Faculty of Medicine, Alborz University of Medical Sciences, 3149969415 Karaj, Iran.; Tonekaboni SH; Department of Pediatric Neurology, School of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, 15468 Tehran, Iran.; Fayazi A; Department of Pediatrics, School of Medicine, Hamadan University of Medical Sciences, 6517838678 Hamadan, Iran.; Urbaniak M; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Barba U; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Hoenicka J; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Palau F; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, WC1N 3GB London, United Kingdom.; Ortigoza-Escobar JD; Department of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Ribes A; Biochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Santos-Ocaña C; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013 Sevilla, Spain.; Tyler M; Cardiovascular and Genomics Research Institute, City St. George's, University of London, London SW17 0RE, United Kingdom.; Gaffney P; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Carroll CJ; Cardiovascular and Genomics Research Institute, City St. George's, University of London, London SW17 0RE, United Kingdom.; Tort F; Biochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Wierenga KJ; Department of Pediatrics, Division of Genetics and Metabolism, University of Florida, Gainesville, FL 32610, USA.; Webb BD; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53792, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Artuch R; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Baide-Mairena H; Department of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Department of Pediatrics, Hospital General Granollers, 08402 Barcelona, Spain.; Urreizti R; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Nolasco GA; Pediatric Neurology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Roldán M; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Confocal Microscopy and Cellular Imaging Unit, Genetic and Molecular Medicine Department, Pediatric Institute for Rare Diseases, Barcelona, Spain.; Jamshidi Y; Genetics Research Centre, St George's, University of London, London, UK.; Genetics Centre of Excellence, Novo Nordisk Research Centre Oxford, Oxford, UK.; Georvasilis I; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Confocal Microscopy and Cellular Imaging Unit, Genetic and Molecular Medicine Department, Pediatric Institute for Rare Diseases, Barcelona, Spain.; Rodríguez RJ; Pediatric Neurology Department, Hospital General Universitario Dr. Balmis, Alicante, Spain.; Boostani R; Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran.; Shoeibi A; Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran.; Armengol L; Quantitative Genomic Medicine Laboratories, qGenomics, Esplugues de Llobregat, Barcelona, Spain.; Codina A; Applied Research in Neuromuscular Diseases, Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain.; Karimiani EG; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Hernando-Davalillo C; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Genetic and Molecular Medicine Department, Pediatric Institute for Rare Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.; Martorell L; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Genetic and Molecular Medicine Department, Pediatric Institute for Rare Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.; U-703 Center for Biomedical Research Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Ramírez Almaraz ML; Genetic and Molecular Medicine Department, Pediatric Institute for Rare Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.; Muchart J; Diagnostic Imaging Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Ortez C; Pediatric Neurology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain.; Nascimento A; Pediatric Neurology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain.; U-703 Center for Biomedical Research Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Urreizti R; Genetic and Molecular Medicine Department, Pediatric Institute for Rare Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.; Natera-de Benito D; Pediatric Neurology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain.; Serrano M; Pediatric Neurology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Genetic and Molecular Medicine Department, Pediatric Institute for Rare Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.

Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE

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G.; Alexander, Myriam; Tabara, Yasuharu; Shaw-Hawkins, Sue; Whincup, Peter H; Smith, Albert Vernon; Shi, Gang; Tayo, Bamidele; Seielstad, Mark; Sim, Xueling; Nguyen, Khanh-Dung Hoang; Matullo, Giuseppe; Gaunt, Tom R; Onland-Moret, N Charlotte; Cooper, Matthew N; Platou, Carl G P; Org, Elin; Hardy, Rebecca; Dahgam, Santosh; Palmen, Jutta; Vitart, Veronique; Braund, Peter S; Kuznetsova, Tatiana; Stringham, Heather M; Uiterwaal, Cuno S P M; Adeyemo, Adebowale; Ludwig, Barbara; Tomaszewski, Maciej; Tzoulaki, Ioanna; Palmer, Nicholette D; Sundström, Johan; Chang, Yen-Pei C; Steinle, Nanette I; Grobbee, Diederick E; Arking, Dan E; Kardia, Sharon L; Morrison, Alanna C; Najjar, Samer; Swertz, Morris A; Hadley, David; Brown, Morris J; Connell, John M; Hingorani, Aroon D; Day, Ian N M; Lawlor, Debbie A; Beilby, John P; Lawrence, Robert W; Clarke, Robert; Collins, Rory; Hopewell, Jemma C; Ongen, Halit; Dreisbach, Albert W; Li, Yali; Young, J. H.; Bis, Joshua C; Syvänen, Ann-Christine; Chen, Ming-Huei; Pattaro, Cristian; Bolton, Judith A Hoffman; Köttgen, Anna; Bergmann, Sven; Mooser, Vincent; Chaturvedi, Nish; Frayling, Timothy M; Islam, Muhammad; Jafar, Tazeen H; Erdmann, Jeanette; Kulkarni, Smita R; Grässler, Jürgen; Howard, Philip; Thorand, Barbara; Guarrera, Simonetta; Ricceri, Fulvio; Emilsson, Valur; Plump, Andrew; Weder, Alan B; Sun, Yan V; Bergman, Richard N; Scott, Laura J; Peltonen, Leena; Vartiainen, Erkki; Brand, Stefan-Martin; Staessen, Jan A; Wang, Thomas J; Tomaschitz, Andreas; Burton, Paul R; Artigas, Maria Soler; Dong, Yanbin; Snieder, Harold; Wang, Xiaoling; Zhu, Haidong; Lohman, Kurt K; Rudock, Megan E; Heckbert, Susan R; Smith, Nicholas L; Troffa, Chiara; Wiggins, Kerri L; Doumatey, Ayo; Shriner, Daniel; Veldre, Gudrun; Viigimaa, Margus; Kinra, Sanjay; Prabhakaran, Dorairajan; Tripathy, Vikal; Langefeld, Carl D; Rosengren, Annika; van Oort, Floor Va; Thelle, Dag S; Corsi, Anna Maria; Singleton, Andrew; Forrester, Terrence; Hilton, Gina; Salako, Tunde; Iwai, Naoharu; Kita, Yoshikuni; Ogihara, Toshio; Verweij, Niek; Ohkubo, Takayoshi; Okamura, Tomonori; Ueshima, Hirotsugu; Umemura, Satoshi; Eyheramendy, Susana; Meitinger, Thomas; Wichmann, H-Erich; Cho, Yoon Shin; Kim, Hyung-Lae; Lee, Jong-Young; Vonk, Judith M; Scott, James; Sehmi, Joban S; Hedblad, Bo; Nilsson, Peter; Smith, George Davey; Stanèáková, Alena; Raffel, Leslie J; Yao, Jie; O'Donnell, Chris; Schwartz, Stephen M; Ikram, M Arfan; Longstreth, W. T.; Mosley, Thomas H; Seshadri, Sudha; Shrine, Nick R G; Wain, Louise V; Wennauer, Roman; Morken, Mario A; Laitinen, Jaana; Prokopenko, Inga; Zitting, Paavo; Cooper, Jackie A; Rasheed, Asif; Goel, Anuj; Watkins, Hugh; Bakker, Stephan J L; van Gilst, Wiek H; Janipalli, Charles S; Mani, K Radha; Yajnik, Chittaranjan S; Mattace-Raso, Francesco U S; Wojczynski, Mary K; Demirkan, Ayse; Lakatta, Edward G; Orru, Marco; Scuteri, Angelo; Ala-Korpela, Mika; Kangas, Antti J; Soininen, Pasi; Tukiainen, Taru; Würtz, Peter; Ong, Rick Twee-Hee; Dörr, Marcus; Kroemer, Heyo K; Völker, Uwe; Völzke, Henry; Galan, Pilar; Hercberg, Serge; Lathrop, Mark; Day, Felix R; Zhang, Qunyuan; Zelenika, Diana; Zhai, Guangju; Meschia, James F; Sharma, Pankaj; Terzic, Janos; Kumar, M J Kranthi; Denniff, Matthew; Zukowska-Szczechowska, Ewa; Wagenknecht, Lynne E; Fowkes, F Gerald R; Charchar, Fadi J; Guo, Xiuqing; Rotimi, Charles; Bots, Michiel L; Brand, Eva; Samani, Nilesh J; Polasek, Ozren; Talmud, Philippa J; Nyberg, 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James S; North, Kari E; Forouhi, Nita G; Edkins, Sarah; Varga, Tibor V; Oksa, Heikki; Antonella, Mulas; Moffatt, Miriam F; Kong, Augustine; Herder, Christian; Antti, Jula; Small, Kerrin; Miljkovic, Iva; Atalay, Mustafa; Kiess, Wieland; Murabito, Joanne M; Smit, Johannes H; Campbell, Susan; Fowkes, Gerard R; Nicholson, George; Kovacs, Peter; Zemunik, Tatijana; Basart, Hanneke V; Rathmann, Wolfgang; Maerz, Winfried; Peters, Annette; Province, Michael A; Hastie, Nicholas D; Olsson, Christian; Stumvoll, Michael; Waterworth, Dawn M; Watanabe, Richard M; de Geus, Eco J C; Penninx, Brenda W; Perry, John Rb; Reinmaa, Eva; Dedoussis, George V; Kutalik, Zoltán; Toenjes, Anke; Peyser, Patricia A; Körner, Antje; Keinanen-Kiukaanniemi, Sirkka M; Schadt, Eric E; Saaristo, Timo E; Dupuis, Josée; Sattar, Naveed; Cucca, Francesco; Balkau, Beverley; Froguel, Philippe; Jarvelin, Marjo-Riitta; Bouatia-Naji, Nabila; Stolk, Lisette; Meigs, James B; Ahmadi, Kourosh R; Ainali, Chrysanthi; Barrett, Amy; Vallejo, Edgar E; Bataille, Veronique; Bell, Jordana T; Buil, Alfonso; Dermitzakis, Emmanouil T; Dimas, Antigone S; Durbin, Richard; Glass, Daniel; Hassanali, Neelam; Westra, Harm-Jan; Ingle, Catherine; Knowles, David; Krestyaninova, Maria; Lowe, Christopher E; Meduri, Eshwar; di Meglio, Paola; Montgomery, Stephen B; Nestle, Frank O; Nica, Alexandra C; Nisbet, James; O'Rahilly, Stephen; Parts, Leopold; Potter, Simon; Sekowska, Magdalena; Shin, So-Youn; Consortium, ADIPOGen; Small, Kerrin S; Surdulescu, Gabriela; Travers, Mary E; Tsaprouni, Loukia; Tsoka, Sophia; Wilk, Alicja; Yang, Tsun-Po; Consortium, CARDIOGRAMplusC4D; Matise, Tara; Buyske, Steve; Higashio, Julia; Williams, Rasheeda; Nato, Andrew; Ambite, Jose Luis; Deelman, Ewa; Manolio, Teri; Hindorff, Lucia; Consortium, CKDGen; Heiss, Gerardo; Taylor, Kira; Franceschini, Nora; Avery, Christy; Graff, Misa; Lin, Danyu; Quibrera, Miguel; Cochran, Barbara; Kao, Linda; Umans, Jason; Consortium, GEFOS; Cole, Shelley; MacCluer, Jean; Person, Sharina; Pankow, James; Gross, Myron; Fornage, Myriam; Durda, Peter; Jenny, Nancy; Patsy, Bruce; Consortium, GENIE; Arnold, Alice; Buzkova, Petra; Crawford, Dana; Haines, Jonathan; Murdock, Deborah; Glenn, Kim; Brown-Gentry, Kristin; Thornton-Wells, Tricia; Dumitrescu, Logan; Jeff, Janina; GLGC; Bush, William S; Mitchell, Sabrina L; Goodloe, Robert; Wilson, Sarah; Boston, Jonathan; Malinowski, Jennifer; Restrepo, Nicole; Oetjens, Matthew; Fowke, Jay; Zheng, Wei; ICBP; Spencer, Kylee; Ritchie, Marylyn; Pendergrass, Sarah; Le Marchand, Loïc; Wilkens, Lynne; Park, Lani; Tiirikainen, Maarit; Kolonel, Laurence; Lim, Unhee; Cheng, Iona; Consortium, International Endogene; Wang, Hansong; Shohet, Ralph; Haiman, Christopher; Stram, Daniel; Henderson, Brian; Monroe, Kristine; Schumacher, Fredrick; Peters, Ulrike; Anderson, Garnet; Study, LifeLines Cohort; Carlson, Chris; Prentice, Ross; LaCroix, Andrea; Wu, Chunyuan; Carty, Cara; Gong, Jian; Rosse, Stephanie; Young, Alicia; Haessler, Jeff; Kocarnik, Jonathan; Investigators, MAGIC; Lin, Yi; Jackson, Rebecca; Duggan, David; Kuller, Lew; Perry, John R B; He, Chunyan; Sulem, Patrick; Consortium, MuTHER; Barbalic, Maja; Broer, Linda; Byrne, Enda M; Ernst, Florian; Gudbjartsson, Daniel F; McArdle, Patick F; Consortium, PAGE; Porcu, Eleonora; van Wingerden, Sophie; Zhuang, Wei V; Albrecht, Eva; Randall, Joshua C; Consortium, ReproGen; Lauc, Lovorka Barac; Boban, Mladen; Broekmans, Frank J; Burri, Andrea; Chanock, Stephen J; Chen, Constance; Cornelis, Marilyn C; Amouyel, Philippe; Corre, Tanguy; Coviello, Andrea D; d'Adamo, Pio; Davies, Gail; Deary, Ian J; Dedoussis, George V Z; Deloukas, Panagiotis; Ebrahim, Shah; Eiriksdottir, Gudny; Eriksson, Johan G; Fauser, Bart C J M; Ferreli, Liana; Folsom, Aaron R; Garcia, Melissa E; Gasparini, Paolo; Bakker, Stephan Jl; Glazer, Nicole; Hall, Per; Haller, Toomas; Hankinson, Susan E; Hass, Merli; Heath, Andrew C; Beilby, John; Janssens, A Cecile J W; Kardia, Sharon L R; Keyzer, Jules; Kolcic, Ivana; Lahti, Jari; Lai, Sandra; Laisk, Triin; Laven, Joop S E; Liu, Jianjun; Lopez, Lorna M; Louwers, Yvonne V; Marongiu, Mara; Blangero, John; Klaric, Irena Martinovic; Masciullo, Corrado; McKnight, Barbara; Medland, Sarah E; Melzer, David; Newman, Anne B; Paré, Guillaume; Peeters, Petra H M; Pistis, Giorgio; Plump, Andrew S; Pop, Victor J M; Räikkönen, Katri; Sala, Cinzia; Salumets, Andres; Smith, Jennifer A; Stacey, Simon N; Starr, John M; Stathopoulou, Maria G; Styrkarsdottir, Unnur; Tenesa, Albert; Scherag, André; Toniolo, Daniela; Tryggvadottir, Laufey; Tsui, Kim; Ulivi, Sheila; van Dam, Rob M; van Gils, Carla H; van Nierop, Peter; Vink, Jacqueline M; Voorhuis, Marlies; Waeber, Gérard; Wallaschofski, Henri; Wichmann, H Erich; Widen, Elisabeth; Wijnands-van Gent, Colette J M; Claudi-Boehm, Simone; Zgaga, Lina; Zygmunt, Marek; Arnold, Alice M; Buring, Julie E; Crisponi, Laura; Demerath, Ellen W; Hu, Frank B; Hunter, David J; Launer, Lenore J; Crawford, Dana C; Schlessinger, David; Murray, Anna; Visser, Jenny A; Lunetta, Kathryn L; Elks, Cathy E; Cousminer, Diana L; Feenstra, Bjarke; Lin, Peng; de Geus, Eco Jc; McArdle, Patrick F; van Wingerden, Sophie W; Smith, Erin N; Ulivi, Shelia; Warrington, Nicole M; Alavere, Helen; Erbel, Raimund; Barroso, Ines; Berenson, Gerald S; Blackburn, Hannah; Busonero, Fabio; Chen, Wei; Couper, David; Easton, Douglas F; Eriksson, Johan; Foroud, Tatiana; Geller, Frank; Ferrannini, Ele; Hernandez, Dena G; Kilpeläinen, Tuomas O; Li, Shengxu; Melbye, Mads; Murray, Jeffrey C; Murray, Sarah S; Nelis, Mari; Ness, Andrew R; Northstone, Kate; Franco, Oscar H; Pennell, Craig E; Pharoah, Paul; Rafnar, Thorunn; Rice, John P; Ring, Susan M; Gansevoort, Ron T; Schork, Nicholas J; Segrè, Ayellet V; Sovio, Ulla; Srinivasan, Sathanur R; Tammesoo, Mar-Liis; Tikkanen, Emmi; Tyrer, Jonathon; van Meurs, Joyve B J; Waeber, Gerard; Weedon, Michael N; Haiman, Christopher A; Young, Lauren; Zhuang, Wei Vivian; Bierut, Laura J; Boyd, Heather A; Hattersley, Andrew T; Schreiber, Stefan; Heliövaara, Markku; Hoffmann, Wolfgang; Homuth, Georg; Johansen, Berit; Jousilahti, Pekka; Jula, Antti M; Kee, Frank; Fehrmann, Rudolf; Kraja, Aldi T; Kuulasmaa, Kari; Le Marchand, Loic; Karjalainen, Juha; Lyssenko, Valeriya; Männistö, Satu; Marette, André; Matise, Tara C; Musk, Arthur W; Möhlenkamp, Stefan; Kahali, Bratati; Raitakari, Olli T; Rankinen, Tuomo; Rao, D. C.; Rice, Treva K; Ritchie, Marylyn D; Sarzynski, Mark A; Schwarz, Peter Eh; Steinthorsdottir, Valgerdur; Strauch, Konstantin; Tönjes, Anke; Tremblay, Angelo; Vohl, Marie-Claude; Witteman, Jacqueline C; Bouchard, Claude; Cauchi, Stéphane; Grabe, Hans-Jörgen; Jöckel, Karl-Heinz; Anderson, Denise; Palmer, Colin Na; Beekman, Marian; Pérusse, Louis; Sinisalo, Juha; Veronesi, Giovanni; Buyske, Steven; Walker, Mark; Abecasis, Goncalo R; Berndt, Sonja I; Kaplan, Robert C; Qi, Lu; Locke, Adam E; Yang, Jian; Speliotes, Elizabeth K; Fox, Caroline S; Heid, Iris M; Loos, Ruth Jf; Dastani, Zari; Timpson, Nicholas; Yuan, Xin; Henneman, Peter; Kizer, Jorge R; Lyytikainen, Leo-Pekka; Fuchsberger, Christian; Coassin, Stefan; Lohman, Kurt; Uh, Hae-Won; Bidulescu, Aurelian; Greenwood, Celia M T; Ladouceur, Martin; Grimsby, Jonna; Manning, Alisa K; Kooner, Jaspal; Mooser, Vincent E; Kapur, Karen A; Chambers, John; Frants, Rune; Willemsvan-vanDijk, Ko; Kristiansson, Kati; Winkler, Thomas; Tracy, Russell P; Brody, Jennifer; Chen, Ida; Wood, Andy; Carlson, Olga D; Egan, Josephine M; Böhringer, Stefan; van Heemst, Diana; Kedenko, Lyudmyla; Leach, Irene Mateo; Nuotio, Marja-Liisa; Loo, Britt-Marie; Harris, Tamara; Kanaya, Alka; Haun, Margot; Katsareli, Efi; Medina-Gomez, Carolina; Couper, David J; Duncan, Bruce B; Kloppenburg, Margreet; Borja, Judith B; Wilson, James G; Musani, Solomon; Semple, Robert; Allison, Matthew A; Redline, Susan; Buxbaum, Sarah G; Meulenbelt, Ingrid; Ballantyne, Christie M; Pasko, Dorota; Paulweber, Bernhard; Pechlivanis, Sonali; Siscovick, David S; Kronenberg, Florian; van Duijn, Cornelia; Peters, Marjolein J; Dupuis, Josee; Richards, John Brent; Willenborg, Christina; Thompson, John R; Goldstein, Benjamin A; König, Inke R; Cazier, Jean-Baptiste; Hall, Alistair S; Havulinna, Aki S; Ho, Weang K; Eriksson, Niclas; Sung, Yun Ju; Lundmark, Per; Rafelt, Suzanne; Van Zuydam, Natalie; Ziegler, Andreas; Balmforth, Anthony J; Burgdorf, Christof; Cox, David; El Mokhtari, 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H. L.; Evangelou, Evangelos; Hsu, Yi-Hsiang

Nature
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
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Nature 518(7538), 187-196 (2015). doi:10.1038/nature14132
Nature, vol. 518, no. 7538, pp. 187-196
Nature 518, 187-196 (2015)
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Nature, vol 518, iss 7538

Marti-Sanchez L.; Baide-Mairena H.; Marce-Grau A.; Pons R.; Skouma A.; Lopez-Laso E.; Sigatullina M.; Rizzo C.; Semeraro M.; Martinelli D.; Carrozzo R.; Dionisi-Vici C.; Gonzalez-Gutierrez-Solana L.; Correa-Vela M.; Ortigoza-Escobar J. D.; Sanchez-Montanez A.; Vazquez E.; Delgado I.; Aguilera-Albesa S.; Yoldi M. E.; Ribes A.; Tort F.; Pollini L.; Galosi S.; Leuzzi V.; Tolve M.; Perez-Gay L.; Aldamiz-Echevarria L.; Del Toro M.; Arranz A.; Roelens F.; Urreizti R.; Artuch R.; Macaya A.; Perez-Duenas B.

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r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

Castilla-Vallmanya L.; Selmer K. K.; Dimartino C.; Rabionet R.; Blanco-Sanchez B.; Yang S.; Reijnders M. R. F.; van Essen A. J.; Oufadem M.; Vigeland M. D.; Stadheim B.; Houge G.; Cox H.; Kingston H.; Clayton-Smith J.; Innis J. W.; Iascone M.; Cereda A.; Gabbiadini S.; Chung W. K.; Sanders V.; Charrow J.; Bryant E.; Millichap J.; Vitobello A.; Thauvin C.; Mau-Them F. T.; Faivre L.; Lesca G.; Labalme A.; Rougeot C.; Chatron N.; Sanlaville D.; Christensen K. M.; Kirby A.; Lewandowski R.; Gannaway R.; Aly M.; Lehman A.; Clarke L.; Graul-Neumann L.; Zweier C.; Lessel D.; Lozic B.; Aukrust I.; Peretz R.; Stratton R.; Smol T.; Dieux-Coeslier A.; Meira J.; Wohler E.; Sobreira N.; Beaver E. M.; Heeley J.; Briere L. C.; High F. A.; Sweetser D. A.; Walker M. A.; Keegan C. E.; Jayakar P.; Shinawi M.; Kerstjens-Frederikse W. S.; Earl D. L.; Siu V. M.; Reesor E.; Yao T.; Hegele R. A.; Vaske O. M.; Rego S.; Shapiro K. A.; Wong B.; Gambello M. J.; McDonald M.; Karlowicz D.; Colombo R.; Serretti A.; Pais L.; O'Donnell-Luria A.; Wray A.; Sadedin S.; Chong B.; Tan T. Y.; Christodoulou J.; White S. M.; Slavotinek A.; Barbouth D.; Morel Swols D.; Parisot M.; Bole-Feysot C.; Nitschke P.; Pingault V.; Munnich A.; Cho M. T.; Cormier-Daire V.; Balcells S.; Lyonnet S.; Grinberg D.; Amiel J.; Urreizti R.; Gordon C. T.

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Universidad de Barcelona
Articles publicats en revistes (Genètica, Microbiologia i Estadística)
instname
Genetics in Medicine, vol 22, iss 7

Pajusalu S; Genetics and Personalized Medicine Clinic, Tartu University Hospital, L. Puusepa Street 2, Tartu, Estonia.; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, L. Puusepa Street 2, Tartu, Estonia.; Vals MA; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, L. Puusepa Street 2, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, N. Lunini Street 6, Tartu, Estonia.; Serrano M; Pediatric Neurology Department and Clinical Biochemistry and Genetics Units, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Witters P; Department of Paediatrics, Metabolic Disease Center, University Hospitals Leuven, Leuven, Belgium.; Department of Development and Regeneration, Faculty of Medicine, KU Leuven, Leuven, Belgium.; Cechova A; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Honzik T; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Edmondson AC; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Pennsylvania, USA.; Ficicioglu C; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Pennsylvania, USA.; Barone R; Child Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; De Lonlay P; Reference Center for Inborn Errors of Metabolism, Necker Hospital, APHP, University of Paris, Inserm UMR_S1163, INEM, and Institut Imagine, Filière G2M, MetabERN, Paris, France.; Bérat CM; Biochemistry and Genetics Department, Bichat-Claude Bernard Hospital, AP-HP, University of Paris and Inserm U1149, Paris, France.; Vuillaumier-Barrot S; Biochemistry and Genetics Department, Bichat-Claude Bernard Hospital, AP-HP, University of Paris and Inserm U1149, Paris, France.; Lam C; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.; Patterson MC; Departments of Neurology and Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Janssen MCH; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, Netherlands.; Martins E; Centro de Genética Médica, Centro Hospitalar Universitário de Santo António, Porto, Portugal.; Quelhas D; Centro de Genética Médica, Centro Hospitalar Universitário de Santo António, Porto, Portugal.; Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, The Institute of Mother and Child, Warsaw, Poland.; Mousa J; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Urreizti R; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; McWilliams P; Glycomine, Inc., San Francisco, California, USA.; Vernhes F; Glycomine, Inc., San Francisco, California, USA.; Plotkin H; Glycomine, Inc., San Francisco, California, USA.; Morava E; Departments of Neurology and Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.; Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.; Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, L. Puusepa Street 2, Tartu, Estonia.; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, L. Puusepa Street 2, Tartu, Estonia.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Castilla-Vallmanya, L; Centeno-Pla, M; Franco-Valls, H; Prat-Planas, A; Rojano, E; Seoane, P; Perkins, JR; Garcia-Ranea, JA; Oliva, C; Ormazabal-Herrero A; Artuch-Iriberri R; Raquel Rabionet Janssen; Grinberg-Vaisman DR; Balcells S; Urreizti R

EUROPEAN JOURNAL OF HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

Castilla-Vallmanya, L; Centeno-Pla, M; Franco-Valls, H; Prat-Planas, A; Rojano, E; Seoane, P; Perkins, JR; Garcia-Ranea, JA; Oliva, C; Ormazabal, A; Artuch, R; Rabionet, R; Grinberg, D; Balcells, S; Urreizti, R

EUROPEAN JOURNAL OF HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Prat-Planas, A; Castilla-Vallmanya, L; Subias, M; Centeno-Pla, M; Grinberg, D; Rabionet, R; Urreizti, R; Balcells, S

EUROPEAN JOURNAL OF HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu

Urreizti R; Clinical Biochemistry Department, Hospital Sant Joan de Déu. Institut de Recerca Sant Joan de Déu (IRSJD), Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain.; Vissicchio J; Augusta University and University of Georgia Medical Partnership, Athens, Georgia, USA.; Idries M; St. George's University, Department of Biochemistry, St. George's, Grenada.; Cozar M; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain.; Department of Genetics, Microbiology and Statistics, Faculty of Biology, Universitat de Barcelona, IBUB, IRSJD, Barcelona, Spain.; Rabionet R; Department of Genetics, Microbiology and Statistics, Faculty of Biology, Universitat de Barcelona, IBUB, IRSJD, Barcelona, Spain.; Donald T; Pediatrics Ward, Grenada General Hospital, St. George's, Grenada.; Bhoj EJ; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Nomakuchi TT; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Shipley SC; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Timms AE; Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA.; Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.; Serrano M; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain.; Pediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu (IRSJD), Barcelona, Spain.; Sobering AK; Augusta University and University of Georgia Medical Partnership, Athens, Georgia, USA.; St. George's University, Department of Biochemistry, St. George's, Grenada.; Windward Islands Research and Education Foundation, True Blue, St. George's, Grenada.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Emperador S; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain.; Instituto de Investigación Sanitaria (IIS) de Aragón, 50009, Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Habbane M; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain.; Laboratoire Biologie Et Santé, Faculté Des Sciences Ben M'Sick, Hassan II University of Casablanca, 20670, Casablanca, Morocco.; López-Gallardo E; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain.; Instituto de Investigación Sanitaria (IIS) de Aragón, 50009, Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Del Rio A; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain.; Llobet L; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain.; Instituto de Investigación Sanitaria (IIS) de Aragón, 50009, Zaragoza, Spain.; Certest Biotec, 50840-San Mateo de Gállego, Zaragoza, Spain.; Mateo J; Servicio de Oftalmología, Hospital Clínico Universitario Lozano Blesa, 50009, Zaragoza, Spain.; Sanz-López AM; Servicio de Oftalmología, Hospital Universitario de Toledo, 45004, Toledo, Spain.; Fernández-García MJ; Servicio de Oftalmología, Hospital Universitario de Toledo, 45004, Toledo, Spain.; Sánchez-Tocino H; Servicio de Oftalmología. Hospital Universitario Río Hortega, 47012, Valladolid, Spain.; Benbunan-Ferreiro S; Servicio de Oftalmología. Hospital Universitario Río Hortega, 47012, Valladolid, Spain.; Calabuig-Goena M; Servicio de Oftalmología. Hospital Universitario Río Hortega, 47012, Valladolid, Spain.; Narvaez-Palazón C; Instituto Oftalmológico Recoletas, 47004, Valladolid, Spain.; Fernández-Vega B; Instituto Oftalmológico Fernández-Vega, 33012-Oviedo, Asturias, Spain.; González-Iglesias H; Instituto de Productos Lácteos de Asturias, Consejo Superior de Investigaciones Científicas (IPLA-CSIC), 33300-Villaviciosa, Asturias, Spain.; Urreizti R; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Departament de Bioquímica Clínica, Institut de Recerca Sant Joan de Déu, 08950, Barcelona, Spain.; Artuch R; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Departament de Bioquímica Clínica, Institut de Recerca Sant Joan de Déu, 08950, Barcelona, Spain.; Pacheu-Grau D; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain.; Instituto de Investigación Sanitaria (IIS) de Aragón, 50009, Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Bayona-Bafaluy P; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain.; Instituto de Investigación Sanitaria (IIS) de Aragón, 50009, Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Instituto de Biocomputación y Física de Sistemas Complejos (BIFI), Universidad de Zaragoza, 50018, Zaragoza, Spain.; Montoya J; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain. jmontoya@unizar.es.; Instituto de Investigación Sanitaria (IIS) de Aragón, 50009, Zaragoza, Spain. jmontoya@unizar.es.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. jmontoya@unizar.es.; Ruiz-Pesini E; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain. eduruiz@unizar.es.; Instituto de Investigación Sanitaria (IIS) de Aragón, 50009, Zaragoza, Spain. eduruiz@unizar.es.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. eduruiz@unizar.es.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Martínez-Gil N; Roca-Ayats N; Vilardell M; Civit S; Urreizti R; García-Giralt N; Mellibovsky L; Nogués X; Díez-Pérez A; Grinberg D; Balcells S

Revista de Osteoporosis y Metabolismo Mineral, Vol 10, Iss 4, Pp 119-124 (2018)

Centeno, M.; Castilla-Vallmanya, L.; Acar, S.; Giray-Bozkaya, O.; Prat, A.; Carbonell-Roque, A.; Martinez-Cabrera, R.; Rabionet, R.; Grinberg, D.; Urreizti, R.; Balcells, S.

Cao X; Laboratory of Biosignaling & Therapeutics, KU Leuven Department of Cellular and Molecular Medicine, University of Leuven, B-3000, Leuven, Belgium.; Lake M; Laboratory of Biosignaling & Therapeutics, KU Leuven Department of Cellular and Molecular Medicine, University of Leuven, B-3000, Leuven, Belgium.; Van der Hoeven G; Laboratory of Biosignaling & Therapeutics, KU Leuven Department of Cellular and Molecular Medicine, University of Leuven, B-3000, Leuven, Belgium.; Claes Z; Laboratory of Biosignaling & Therapeutics, KU Leuven Department of Cellular and Molecular Medicine, University of Leuven, B-3000, Leuven, Belgium.; Del Pino García J; Laboratory of Biosignaling & Therapeutics, KU Leuven Department of Cellular and Molecular Medicine, University of Leuven, B-3000, Leuven, Belgium.; Lemaire S; Laboratory of Biosignaling & Therapeutics, KU Leuven Department of Cellular and Molecular Medicine, University of Leuven, B-3000, Leuven, Belgium.; Greiner EC; Department of Biochemistry and Cell Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, USA.; Dartmouth Cancer Center, Lebanon, NH, USA.; Karamanou S; Laboratory of Molecular Bacteriology, KU Leuven Department of Microbiology and Immunology, University of Leuven, Leuven, Belgium.; Van Eynde A; Laboratory of Biosignaling & Therapeutics, KU Leuven Department of Cellular and Molecular Medicine, University of Leuven, B-3000, Leuven, Belgium.; Kettenbach AN; Department of Biochemistry and Cell Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, USA.; Dartmouth Cancer Center, Lebanon, NH, USA.; Natera de Benito D; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Deu, Barcelona, Spain.; Carrera García L; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Deu, Barcelona, Spain.; Hernando Davalillo C; Department of Genetic Medicine-IPER, Hospital Sant Joan de Deu, Barcelona, Spain.; Ortez C; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Deu, Barcelona, Spain.; Nascimento A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Deu, Barcelona, Spain.; Urreizti R; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Deu, Hospital Sant Joan de Deu, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Bollen M; Laboratory of Biosignaling & Therapeutics, KU Leuven Department of Cellular and Molecular Medicine, University of Leuven, B-3000, Leuven, Belgium. Mathieu.Bollen@kuleuven.be.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Urreizti, R.; Moya-García, A. A.; Pino-?ngeles, A.; Cozar, M.; Langkilde, A.; Fanhoe, U.; Esteves, C.; Arribas, J.; Vilaseca, M. A.; Pérez-Dueñas, B.; Pineda, M.; González, V.; Artuch, R.; Baldellou, A.; Vilarinho, L.; Fowler, B.; Ribes, A.; Sánchez-Jiménez, F.; Grinberg, D.; Balcells, S.

CLINICAL GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Roca-Ayats, N; Cozar Morillo, M; Gerousi, M; Czwan, E; Urreizti, R; Martínez-Gil, N; García-Giralt, N; Mellibovsky, L; Nogués, X; Díez-Pérez, A; Balcells, S; Grinberg, D

Revista de Osteoporosis y Metabolismo Mineral v.9 n.1 2017
SciELO España. Revistas Científicas Españolas de Ciencias de la Salud
instname
Instituto de Salud Carlos III (ISCIII)
Revista de Osteoporosis y Metabolismo Mineral, Vol 9, Iss 1, Pp 28-34 (2017)
Revista de Osteoporosis y Metabolismo Mineral, Volume: 9, Issue: 1, Pages: 28-34, Published: MAR 2017

Castilla-Vallmanya L; Selmer KK; Dimartino C; Raquel Rabionet Janssen; Blanco-Sánchez B; Yang S; Reijnders MRF; van Essen AJ; Oufadem M; Vigeland MD; Stadheim B; Houge G; Cox H; Kingston H; Clayton-Smith J; Innis JW; Iascone M; Cereda A; Gabbiadini S; Chung WK; Sanders V; Charrow J; Bryant E; Millichap J; Vitobello A; Thauvin C; Mau-Them FT; Faivre L; Lesca G; Labalme A; Rougeot C; Chatron N; Sanlaville D; Christensen KM; Kirby A; Lewandowski R; Gannaway R; Aly M; Lehman A; Clarke L; Graul-Neumann L; Zweier C; Lessel D; Lozic B; Aukrust I; Peretz R; Stratton R; Smol T; Dieux-Coëslier A; Meira J; Wohler E; Sobreira N; Beaver EM; Heeley J; Briere LC; High FA; Sweetser DA; Walker MA; Keegan CE; Jayakar P; Shinawi M; Kerstjens-Frederikse WS; Earl DL; Siu VM; Reesor E; Yao T; Hegele RA; Vaske OM; Rego S; Undiagnosed Diseases Network, Care4Rare Canada Consortium; Shapiro KA; Wong B; Gambello MJ; McDonald M; Karlowicz D; Colombo R; Serretti A; Pais L; O'Donnell-Luria A; Wray A; Sadedin S; Chong B; Tan TY; Christodoulou J; White SM; Slavotinek A; Barbouth D; Morel Swols D; Parisot M; Bole-Feysot C; Nitschké P; Pingault V; Munnich A; Cho MT; Cormier-Daire V; Balcells S; Lyonnet S; Grinberg-Vaisman DR; Amiel J; Urreizti R; Gordon CT

GENETICS IN MEDICINE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

Paredes-Fuentes AJ; Division of Inborn Errors of Metabolism-IBC, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, Barcelona, Spain.; Oliva C; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.; Urreizti R; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Yubero D; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Department of Genetic and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Artuch R; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.

Publisher: Informa Healthcare Country of Publication: England NLM ID: 8914816 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-781X (Electronic) Linking ISSN: 10408363 NLM ISO Abbreviation: Crit Rev Clin Lab Sci Subsets: MEDLINE

Muñoz-Pujol G; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, Barcelona, Spain.; Ortigoza-Escobar JD; Pediatric Neurology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Paredes-Fuentes AJ; Clinical Biochemistry and Molecular Medicine and Genetics Departments, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, and CIBERER, Esplugues de Llobregat, Barcelona, Spain.; Jou C; Pathology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, University of Barcelona, CIBERER, Esplugues de Llobregat, Barcelona, Spain.; Ugarteburu O; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, Barcelona, Spain.; Gort L; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, Barcelona, Spain.; Yubero D; Clinical Biochemistry and Molecular Medicine and Genetics Departments, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, and CIBERER, Esplugues de Llobregat, Barcelona, Spain.; García-Cazorla A; Pediatric Neurology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; O'Callaghan M; Pediatric Neurology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Campistol J; Pediatric Neurology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Muchart J; Pediatric Radiology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Yépez VA; School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany.; Department of Informatics, Technical University of Munich, Garching, Germany.; Gusic M; School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Gagneur J; School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany.; Department of Informatics, Technical University of Munich, Garching, Germany.; Prokisch H; School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Artuch R; Clinical Biochemistry and Molecular Medicine and Genetics Departments, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, and CIBERER, Esplugues de Llobregat, Barcelona, Spain.; Ribes A; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, Barcelona, Spain.; Urreizti R; Clinical Biochemistry and Molecular Medicine and Genetics Departments, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, and CIBERER, Esplugues de Llobregat, Barcelona, Spain.; Tort F; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, Barcelona, Spain.

Publisher: International Society of Neuropathology Country of Publication: Switzerland NLM ID: 9216781 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1750-3639 (Electronic) Linking ISSN: 10156305 NLM ISO Abbreviation: Brain Pathol Subsets: MEDLINE

Urreizti, R; Roca Ayats, N; Trepat, J; Garcia Garcia, F; Aleman, A; Orteschi, Daniela; Marangi, Giuseppe; Neri, Giovanni; Opitz, Jm; Dopazo, J; Cormand, B; Vilageliu, L; Balcells, S; Grinberg, D.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
instname
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
r-FISABIO. Repositorio Institucional de Producción Científica
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)