The following new articles have just been published in Orphanet Journal of Rare Diseases |
Research Guérard N, Morand O, Dingemanse JOrphanet Journal of Rare Diseases 2017, 12 :9 (14 January 2017) Abstract | Full Text | PDF Review Tanno L, Simons F, Annesi-Maesano I, Calderon M, Aymé S, Demoly P, on behalf of the Joint Allergy AcademiesOrphanet Journal of Rare Diseases 2017, 12 :8 (13 January 2017) Abstract | Full Text | PDF Research Chiong M, Canson D, Abacan M, Baluyot M, Cordero C, Silao COrphanet Journal of Rare Diseases 2017, 12 :7 (11 January 2017) Abstract | Full Text | PDF Review Rota I, Dhalla FOrphanet Journal of Rare Diseases 2017, 12 :6 (11 January 2017) Abstract | Full Text | PDF Research Zotter Z, Nagy Z, Patócs A, Csuka D, Veszeli N, Kőhalmi K, Farkas HOrphanet Journal of Rare Diseases 2017, 12 :5 (10 January 2017) Abstract | Full Text | PDF Research Pedersen L, Maimburg R, Hertz J, Gjørup H, Pedersen T, Møller-Madsen B, Østergaard JOrphanet Journal of Rare Diseases 2017, 12 :4 (6 January 2017) Abstract | Full Text | PDF Research Mauhin W, Habarou F, Gobin S, Servais A, Brassier A, Grisel C, Roda C, Pinto G, Moshous D, Ghalim F, Krug P, Deltour N, Pontoizeau C, Dubois S, Assoun M, Galmiche L, Bonnefont J, Ottolenghi C, de Blic J, Arnoux J, de Lonlay POrphanet Journal of Rare Diseases 2017, 12 :3 (5 January 2017) Abstract | Full Text | PDF Research Kingswood J, d’Augères G, Belousova E, Ferreira J, Carter T, Castellana R, Cottin V, Curatolo P, Dahlin M, de Vries P, Feucht M, Fladrowski C, Gislimberti G, Hertzberg C, Jozwiak S, Lawson J, Macaya A, Nabbout R, O’Callaghan F, Benedik M, Qin J, Marques R, Sander V, Sauter M, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen A, on behalf of TOSCA consortium and TOSCA investigatorsOrphanet Journal of Rare Diseases 2017, 12 :2 (5 January 2017) Abstract | Full Text | PDF Research Rodriguez-Monguio R, Spargo T, Seoane-Vazquez EOrphanet Journal of Rare Diseases 2017, 12 :1 (5 January 2017) Abstract | Full Text | PDF Research Merrill S, Nelson G, Longo N, Bonkowsky JOrphanet Journal of Rare Diseases 2016, 11 :169 (7 December 2016) Abstract | Full Text | PDF Research Siddiq S, Wilson B, Graham I, Lamoureux M, Khangura S, Tingley K, Tessier L, Chakraborty P, Coyle D, Dyack S, Gillis J, Greenberg C, Hayeems R, Jain-Ghai S, Kronick J, Laberge A, Little J, Mitchell J, Prasad C, Siriwardena K, Sparkes R, Speechley K, Stockler S, Trakadis Y, Wafa S, Walia J, Wilson K, Yuskiv N, Potter B, on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)Orphanet Journal of Rare Diseases 2016, 11 :168 (7 December 2016) Abstract | Full Text | PDF Review Finetti M, Omenetti A, Federici S, Caorsi R, Gattorno MOrphanet Journal of Rare Diseases 2016, 11 :167 (7 December 2016) Abstract | Full Text | PDF Letter to the Editor Vivanti A, Cordier A, Baujat G, Benachi AOrphanet Journal of Rare Diseases 2016, 11 :166 (5 December 2016) Abstract | Full Text | PDF Research Pacheco Y, Calender A, Israël-Biet D, Roy P, Lebecque S, Cottin V, Bouvry D, Nunes H, Sève P, Pérard L, Devouassoux G, Freymond N, Khouatra C, Wallaert B, Lamy R, Elsensohn M, Bardel C, Valeyre D, GSF groupOrphanet Journal of Rare Diseases 2016, 11 :165 (3 December 2016) Abstract | Full Text | PDF Letter to the Editor Walkley S, Davidson C, Jacoby J, Marella P, Ottinger E, Austin C, Porter F, Vite C, Ory DOrphanet Journal of Rare Diseases 2016, 11 :161 (1 December 2016) Abstract | Full Text | PDF Research Salomon-Estebanez M, Flanagan S, Ellard S, Rigby L, Bowden L, Mohamed Z, Nicholson J, Skae M, Hall C, Craigie R, Padidela R, Murphy N, Randell T, Cosgrove K, Dunne M, Banerjee IOrphanet Journal of Rare Diseases 2016, 11 :163 (1 December 2016) Abstract | Full Text | PDF Review Janoudi G, Amegatse W, McIntosh B, Sehgal C, Richter TOrphanet Journal of Rare Diseases 2016, 11 :164 (1 December 2016) Abstract | Full Text | PDF Review Arvio M, Mononen IOrphanet Journal of Rare Diseases 2016, 11 :162 (1 December 2016) Abstract | Full Text | PDF Research Forestier-Zhang L, Watts L, Turner A, Teare H, Kaye J, Barrett J, Cooper C, Eastell R, Wordsworth P, Javaid M, Pinedo-Villanueva ROrphanet Journal of Rare Diseases 2016, 11 :160 (28 November 2016) Abstract | Full Text | PDF Review Rothblum-Oviatt C, Wright J, Lefton-Greif M, McGrath-Morrow S, Crawford T, Lederman HOrphanet Journal of Rare Diseases 2016, 11 :159 (25 November 2016) Abstract | Full Text | PDF Review Ehrhart F, Coort S, Cirillo E, Smeets E, Evelo C, Curfs LOrphanet Journal of Rare Diseases 2016, 11 :158 (25 November 2016) Abstract | Full Text | PDF Letter to the Editor Vinay K, Sawatkar G, Saikia U, Dogra SOrphanet Journal of Rare Diseases 2016, 11 :156 (22 November 2016) Abstract | Full Text | PDF Research Kjeldsen A, Aagaard K, Tørring P, Möller S, Green AOrphanet Journal of Rare Diseases 2016, 11 :157 (22 November 2016) Abstract | Full Text | PDF Research Kyriakou A, Dessens A, Bryce J, Iotova V, Juul A, Krawczynski M, Nordenskjöld A, Rozas M, Sanders C, Hiort O, Ahmed SOrphanet Journal of Rare Diseases 2016, 11 :155 (21 November 2016) Abstract | Full Text | PDF Review Woodward L, Johnson S, Walle J, Beck J, Gasteyger C, Licht C, Ariceta G, on behalf of the aHUS Registry SABOrphanet Journal of Rare Diseases 2016, 11 :154 (21 November 2016) Abstract | Full Text | PDF Research Kuppens R, Mahabier E, Bakker N, Siemensma E, Donze S, Hokken-Koelega AOrphanet Journal of Rare Diseases 2016, 11 :153 (16 November 2016) Abstract | Full Text | PDF Review Wagner A, Brucker S, Ueding E, Gröber-Grätz D, Simoes E, Rall K, Kronenthaler A, Schäffeler N, Rieger MOrphanet Journal of Rare Diseases 2016, 11 :152 (16 November 2016) Abstract | Full Text | PDF Letter to the Editor Davies WOrphanet Journal of Rare Diseases 2016, 11 :151 (9 November 2016) Abstract | Full Text | PDF Research Suzuki N, Mori-Yoshimura M, Yamashita S, Nakano S, Murata K, Inamori Y, Matsui N, Kimura E, Kusaka H, Kondo T, Higuchi I, Kaji R, Tateyama M, Izumi R, Ono H, Kato M, Warita H, Takahashi T, Nishino I, Aoki MOrphanet Journal of Rare Diseases 2016, 11 :146 (8 November 2016) Abstract | Full Text | PDF Research Javaid M, Forestier-Zhang L, Watts L, Turner A, Ponte C, Teare H, Gray D, Gray N, Popert R, Hogg J, Barrett J, Pinedo-Villanueva R, Cooper C, Eastell R, Bishop N, Luqmani R, Wordsworth P, Kaye JOrphanet Journal of Rare Diseases 2016, 11 :150 (8 November 2016) Abstract | Full Text | PDF Research Morimoto M, Myung C, Beirnes K, Choi K, Asakura Y, Bokenkamp A, Bonneau D, Brugnara M, Charrow J, Colin E, Davis A, Deschenes G, Gentile M, Giordano M, Gormley A, Govender R, Joseph M, Keller K, Lerut E, Levtchenko E, Massella L, Mayfield C, Najafian B, Parham D, Spranger J, Stenzel P, Yis U, Yu Z, Zonana J, Hendson G, Boerkoel COrphanet Journal of Rare Diseases 2016, 11 :149 (5 November 2016) Abstract | Full Text | PDF Research Kotni M, Zhao M, Wei DOrphanet Journal of Rare Diseases 2016, 11 :148 (5 November 2016) Abstract | Full Text | PDF Research Samueli S, Abraham K, Dressler A, Gröppel G, Mühlebner-Fahrngruber A, Scholl T, Kasprian G, Laccone F, Feucht MOrphanet Journal of Rare Diseases 2016, 11 :145 (3 November 2016) Abstract | Full Text | PDF Research Dooms M, Cassiman D, Simoens SOrphanet Journal of Rare Diseases 2016, 11 :144 (28 October 2016) Abstract | Full Text | PDF Research Baldo C, Casareto L, Renieri A, Merla G, Garavaglia B, Goldwurm S, Pegoraro E, Moggio M, Mora M, Politano L, Sangiorgi L, Mazzotti R, Viotti V, Meloni I, Pellico M, Barzaghi C, Wang C, Monaco L, Filocamo MOrphanet Journal of Rare Diseases 2016, 11 :142 (24 October 2016) Abstract | Full Text | PDF | PubMed Review Iudici M, Quartier P, Terrier B, Mouthon L, Guillevin L, Puéchal XOrphanet Journal of Rare Diseases 2016, 11 :141 (22 October 2016) Abstract | Full Text | PDF Research Lühl S, Bode H, Schlötzer W, Bartsakoulia M, Horvath R, Abicht A, Stenzel M, Kirschner J, Grünert SOrphanet Journal of Rare Diseases 2016, 11 :140 (21 October 2016) Abstract | Full Text | PDF Research Akawi N, Ben-Salem S, Hertecant J, John A, Pramathan T, Kizhakkedath P, Ali B, Al-Gazali LOrphanet Journal of Rare Diseases 2016, 11 :139 (21 October 2016) Abstract | Full Text | PDF Research Somanadhan S, Larkin POrphanet Journal of Rare Diseases 2016, 11 :138 (10 October 2016) Abstract | Full Text | PDF | PubMed Research Colombo E, Spaccini L, Volpi L, Negri G, Cittaro D, Lazarevic D, Zirpoli S, Farolfi A, Gervasini C, Cubellis M, Larizza LOrphanet Journal of Rare Diseases 2016, 11 :136 (7 October 2016) Abstract | Full Text | PDF | PubMed Review Altmann T, Gennery AOrphanet Journal of Rare Diseases 2016, 11 :137 (7 October 2016) Abstract | Full Text | PDF | PubMed Review Brue T, Castinetti FOrphanet Journal of Rare Diseases 2016, 11 :135 (6 October 2016) Abstract | Full Text | PDF | PubMed Research Derhaschnig U, Gilbert J, Jäger U, Böhmig G, Stingl G, Jilma BOrphanet Journal of Rare Diseases 2016, 11 :134 (4 October 2016) Abstract | Full Text | PDF | PubMed Letter to the Editor Buchert R, Nesbitt A, Tawamie H, Krantz I, Medne L, Helbig I, Matalon D, Reis A, Santani A, Sticht H, Abou Jamra ROrphanet Journal of Rare Diseases 2016, 11 :130 (29 September 2016) Abstract | Full Text | PDF | PubMed Research Squeglia V, Barbarino A, Bova M, Gravante C, Petraroli A, Spadaro G, Triggiani M, Genovese A, Marone GOrphanet Journal of Rare Diseases 2016, 11 :133 (29 September 2016) Abstract | Full Text | PDF | PubMed Research Pini G, Bigoni S, Congiu L, Romanelli A, Scusa M, Di Marco P, Benincasa A, Morescalchi P, Ferlini A, Bianchi F, Tropea D, Zappella MOrphanet Journal of Rare Diseases 2016, 11 :132 (29 September 2016) Abstract | Full Text | PDF | PubMed Research Trelinska J, Fendler W, Dachowska I, Kotulska K, Jozwiak S, Antosik K, Gnys P, Borowiec M, Mlynarski WOrphanet Journal of Rare Diseases 2016, 11 :129 (29 September 2016) Abstract | Full Text | PDF | PubMed Review Schwartz L, Holland A, Dykens E, Strong T, Roof E, Bohonowych JOrphanet Journal of Rare Diseases 2016, 11 :131 (29 September 2016) Abstract | Full Text | PDF | PubMed Research Robles N, Peces R, Gómez-Ferrer Á, Villacampa F, Álvarez-Ossorio J, Pérez-Segura P, Morote J, Herrera-Imbroda B, Nieto J, Carballido J, Anido U, Valero M, Meseguer C, Torra ROrphanet Journal of Rare Diseases 2016, 11 :128 (26 September 2016) Abstract | Full Text | PDF | PubMed Research Husson M, Schiff M, Fouilhoux A, Cano A, Dobbelaere D, Brassier A, Mention K, Arnoux J, Feillet F, Chabrol B, Guffon N, Elie C, de Lonlay POrphanet Journal of Rare Diseases 2016, 11 :127 (23 September 2016) Abstract | Full Text | PDF | PubMed Research Alfadhel M, Benmeakel M, Hossain M, Al Mutairi F, Al Othaim A, Alfares A, Al Balwi M, Alzaben A, Eyaid WOrphanet Journal of Rare Diseases 2016, 11 :126 (15 September 2016) Abstract | Full Text | PDF | PubMed Research Sergouniotis P, Barton S, Waller S, Perveen R, Ellingford J, Campbell C, Hall G, Gillespie R, Bhaskar S, Ramsden S, Black G, Lovell SOrphanet Journal of Rare Diseases 2016, 11 :125 (14 September 2016) Abstract | Full Text | PDF | PubMed Research Hugon-Rodin J, Lebègue G, Becourt S, Hamonet C, Gompel AOrphanet Journal of Rare Diseases 2016, 11 :124 (13 September 2016) Abstract | Full Text | PDF | PubMed Research Couce M, Vitoria I, Aldámiz-Echevarría L, Fernández-Marmiesse A, Roca I, Llarena M, Sánchez-Pintos P, Leis R, Hermida AOrphanet Journal of Rare Diseases 2016, 11 :123 (9 September 2016) Abstract | Full Text | PDF | PubMed Research Kawalec P, Sagan A, Pilc AOrphanet Journal of Rare Diseases 2016, 11 :122 (6 September 2016) Abstract | Full Text | PDF | PubMed Research Koens L, Kuiper A, Coenen M, Elting J, de Vries J, Engelen M, Koelman J, van Spronsen F, Spikman J, de Koning T, Tijssen MOrphanet Journal of Rare Diseases 2016, 11 :121 (1 September 2016) Abstract | Full Text | PDF | PubMed Research Chang A, Arron S, Migden M, Solomon J, Yoo S, Day B, McKenna E, Sekulic AOrphanet Journal of Rare Diseases 2016, 11 :120 (1 September 2016) Abstract | Full Text | PDF | PubMed Research Campo I, Luisetti M, Griese M, Trapnell B, Bonella F, Grutters J, Nakata K, Van Moorsel C, Costabel U, Cottin V, Ichiwata T, Inoue Y, Braschi A, Bonizzoni G, Iotti G, Tinelli C, Rodi G, for the WLL International Study GroupOrphanet Journal of Rare Diseases 2016, 11 :115 (31 August 2016) Abstract | Full Text | PDF | PubMed Review Hendriksz C, Berger K, Lampe C, Kircher S, Orchard P, Southall R, Long S, Sande S, Gold JOrphanet Journal of Rare Diseases 2016, 11 :119 (26 August 2016) Abstract | Full Text | PDF | PubMed Research Laššuthová P, Šafka Brožková D, Krůtová M, Neupauerová J, Haberlová J, Mazanec R, Dřímal P, Seeman POrphanet Journal of Rare Diseases 2016, 11 :118 (22 August 2016) Abstract | Full Text | PDF | PubMed Review Montaudié H, Chiaverini C, Sbidian E, Charlesworth A, Lacour JOrphanet Journal of Rare Diseases 2016, 11 :117 (20 August 2016) Abstract | Full Text | PDF | PubMed Research Unsinn C, Das A, Valayannopoulos V, Thimm E, Beblo S, Burlina A, Konstantopoulou V, Mayorandan S, de Lonlay P, Rennecke J, Derbinski J, Hoffmann G, Häberle JOrphanet Journal of Rare Diseases 2016, 11 :116 (19 August 2016) Abstract | Full Text | PDF | PubMed |
viernes, 24 de febrero de 2017
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