Works matching IS 17501172 AND DT 2013 AND VI 8 AND IP 1

Results: 349

Pathways systematically associated to Hirschsprung's disease.
Published in:
2013
By:
- Fernández, Raquel M.;
- Bleda, Marta;
- Luzón-Toro, Berta;
- García-Alonso, Luz;
- Arnold, Stacey;
- Sribudiani, Yunia;
- Besmond, Claude;
- Lantieri, Francesca;
- Doan, Betty;
- Ceccherini, Isabella;
- Lyonnet, Stanislas;
- Hofstra, Robert M. W.;
- Chakravarti, Aravinda;
- Antiňolo, Guillermo;
- Dopazo, Joaquín;
- Borrego, Salud;
- Hofstra, Robert Mw;
- Antiñolo, Guillermo
Publication type:
journal article
Characteristics and management of congenital esophageal stenosis: findings from a multicenter study.
Published in:
2013
By:
- Michaud, Laurent;
- Coutenier, Frédéric;
- Podevin, Guillaume;
- Bonnard, Arnaud;
- Becmeur, François;
- Khen-Dunlop, Naziha;
- Auber, Frédéric;
- Maurel, Aude;
- Gelas, Thomas;
- Dassonville, Martine;
- Borderon, Corinne;
- Dabadie, Alain;
- Weil, Dominique;
- Piolat, Christian;
- Breton, Anne;
- Djeddi, Djamal;
- Morali, Alain;
- Bastiani, Florence;
- Lamireau, Thierry;
- Gottrand, Frédéric
Publication type:
journal article
The effects of Eculizumab on the pathology of malignant atrophic papulosis.
Published in:
2013
By:
- Magro, Cynthia M.;
- Wang, Xuan;
- Garrett-Bakelman, Francine;
- Laurence, Jeffrey C.;
- Shapiro, Lee S.;
- De Sancho, Maria T.;
- Laurence, Jeffrey;
- DeSancho, Maria T
Publication type:
journal article
A prospective observational study of associated anomalies in Hirschsprung's disease.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-184
By:
- Prato, Alessio Pini;
- Rossi, Valentina;
- Mosconi, Manuela;
- Holm, Catarina;
- Lantieri, Francesca;
- Griseri, Paola;
- Ceccherini, Isabella;
- Mavilio, Domenico;
- Jasonni, Vincenzo;
- Tuo, Giulia;
- Derchi, Maria;
- Marasini, Maurizio;
- Magnano, Gianmichele;
- Granata, Claudio;
- Ghiggeri, Gianmarco;
- Priolo, Enrico;
- Sposetti, Lorenza;
- Porcu, Adelina;
- Buffa, Piero;
- Mattioli, Girolamo
Publication type:
Article
Acquired non-compaction in integrin-myopathy.
Published in:
2013
By:
- Finsterer, Josef;
- Zarrouk-Mahjoub, Sinda
Publication type:
Letter
Phenotypical variation within 22 families with Pompe disease.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-182
By:
- Wens, Stephan C. A.;
- van Gelder, Carin M.;
- Kruijshaar, Michelle E.;
- de Vries, Juna M.;
- van der Beek, Nadine A. M. E.;
- Reuser, Arnold J. J.;
- van Doorn, Pieter A.;
- van der Ploeg, Ans T.;
- Brusse, Esther
Publication type:
Article
Duodenal mucosal risk markers in patients with familial adenomatous polyposis: effects of celecoxib/ursodeoxycholic acid co-treatment and comparison with patient controls.
Published in:
2013
By:
- van Heumen, Bjorn W. H.;
- Roelofs, Hennie M. J.;
- te Morsche, René H. M.;
- Nagengast, Fokko M.;
- Peters, Wilbert H. M.
Publication type:
journal article
Funding innovation for treatment for rare diseases: adopting a cost-based yardstick approach.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-180
By:
- Fellows, Garret Kent;
- Hollis, Aidan
Publication type:
Article
Drug development for exceptionally rare metabolic diseases: challenging but not impossible.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-179
By:
- Putzeist, Michelle;
- Mantel-Teeuwisse, Aukje K.;
- Gispen-de Wied, Christine C.;
- Hoes, Arno W;
- Leufkens, Hubert GM.;
- de Vrueh, Remco LA.
Publication type:
Article
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutations.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-178
By:
- Farag, Heba Gamal;
- Froehler, Sebastian;
- Oexle, Konrad;
- Ravindran, Ethiraj;
- Schindler, Detlev;
- Staab, Timo;
- Huebner, Angela;
- Kraemer, Nadine;
- Chen, Wei;
- Kaindl, Angela M.
Publication type:
Article
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-177
By:
- Ashizawa, Tetsuo;
- Figueroa, Karla P.;
- Perlman, Susan L.;
- Gomez, Christopher M.;
- Wilmot, George R.;
- Schmahmann, Jeremy D.;
- Ying, Sarah H.;
- Zesiewicz, Theresa A.;
- Paulson, Henry L.;
- Shakkottai, Vikram G.;
- Bushara, Khalaf O.;
- Kuo, Sheng-Han;
- Geschwind, Michael D.;
- Xia, Guangbin;
- Mazzoni, Pietro;
- Krischer, Jeffrey P.;
- Cuthbertson, David;
- Holbert, Amy Roberts;
- Ferguson, John H.;
- Pulst, Stefan M.
Publication type:
Article
Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy.
Published in:
2013
By:
- Nabbout, Rima;
- Chemaly, Nicole;
- Chipaux, Mathilde;
- Barcia, Giulia;
- Bouis, Charles;
- Dubouch, Celia;
- Leunen, Dorothee;
- Jambaqué, Isabelle;
- Dulac, Olivier;
- Dellatolas, Georges;
- Chiron, Catherine
Publication type:
journal article
Bronchoalveolar lavage fluid cytokine profiles in neuroendocrine cell hyperplasia of infancy and follicular bronchiolitis.
Published in:
2013
By:
- Popler, Jonathan;
- Wagner, Brandie D.;
- Tarro, Heidi Luckey;
- Accurso, Frank J.;
- Deterding, Robin R.
Publication type:
journal article
The neurology of rhizomelic chondrodysplasia punctata.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-174
By:
- Bams-Mengerink, Annemieke M.;
- Koelman, Johannes H. T. M.;
- Waterham, Hans;
- Barth, Peter G.;
- Poll-The, Bwee Tien
Publication type:
Article
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-173
By:
- Mignot, Cyril;
- Apartis, Emmanuelle;
- Durr, Alexandra;
- Lourenço, Charles Marques;
- Charles, Perrine;
- Devos, David;
- Moreau, Caroline;
- Lonlay, Pascale de;
- Drouot, Nathalie;
- Burglen, Lydie;
- Kempf, Nadine;
- Nourisson, Elsa;
- Chantot-Bastaraud, Sandra;
- Lebre, Anne-Sophie;
- Rio, Marlène;
- Chaix, Yves;
- Bieth, Eric;
- Roze, Emmanuel;
- Bonnet, Isabelle;
- Canaple, Sandrine
Publication type:
Article
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-172
By:
- Hideki Mutai;
- Naohiro Suzuki;
- Atsushi Shimizu;
- Chiharu Torii;
- Kazunori Namba;
- Noriko Morimoto;
- Jun Kudoh;
- Kimitaka Kaga;
- Kenjiro Kosaki;
- Tatsuo Matsunaga
Publication type:
Article
The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-171
By:
- Rodger, Sunil;
- Lochmüller, Hanns;
- Tassoni, Adrian;
- Gramsch, Kathrin;
- König, Kirsten;
- Bushby, Kate;
- Straub, Volker;
- Korinthenberg, Rudolf;
- Kirschner, Janbernd
Publication type:
Article
GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-170
By:
- Morena-Barrio, Maria E de la;
- Hernández-Caselles, Trinidad;
- Corral, Javier;
- García-López, Roberto;
- Martínez-Martínez, Irene;
- Pérez-Dueñas, Belen;
- Altisent, Carmen;
- Sevivas, Teresa;
- Kristensen, Soren R.;
- Guillén-Navarro, Encarna;
- Miñano, Antonia;
- Vicente, Vicente;
- Jaeken, Jaak;
- Lozano, Maria L.
Publication type:
Article
Organizing national responses for rare blood disorders: the Italian experience with sickle cell disease in childhood.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-169
By:
- Colombatti, Raffaella;
- Perrotta, Silverio;
- Samperi, Piera;
- Casale, Maddalena;
- Masera, Nicoletta;
- Palazzi, Giovanni;
- Sainati, Laura;
- Russo, Giovanna
Publication type:
Article
Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculocutaneous albinism.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-168
By:
- Dotta, Laura;
- Parolini, Silvia;
- Prandini, Alberto;
- Tabellini, Giovanna;
- Antolini, Maddalena;
- Kingsmore, Stephen F.;
- Badolato, Raffaele
Publication type:
Article
Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-167
By:
- Pfeil, Johannes;
- Listl, Stefan;
- Hoffmann, Georg F.;
- Kölker, Stefan;
- Lindner, Martin;
- Burgard, Peter
Publication type:
Article
Niemann-Pick disease type C symptomatology: an expert-based clinical description.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-166
By:
- Mengel, Eugen;
- Klünemann, Hans-Hermann;
- Lourenço, Charles M.;
- Hendriksz, Christian J.;
- Sedel, Frédéric;
- Walterfang, Mark;
- Kolb, Stefan A.
Publication type:
Article
Clinical evidence for orphan medicinal products-a cause for concern?
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-164
By:
- Picavet, Eline;
- Cassiman, David;
- Hollak, Carla E.;
- Maertens, Johan A.;
- Simoens, Steven
Publication type:
Article
Perhexiline maleate in the treatment of fibrodysplasia ossificans progressiva: an openlabeled clinical trial.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-163
By:
- Hiroshi Kitoh;
- Masataka Achiwa;
- Hiroshi Kaneko;
- Kenichi Mishima;
- Masaki Matsushita;
- Izumi Kadono;
- Horowitz, John D.;
- Sallustio, Benedetta C.;
- Kinji Ohno;
- Naoki Ishiguro
Publication type:
Article
The expanding spectrum of rare monogenic autoinflammatory diseases.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-162
By:
- Touitou, Isabelle;
- Galeotti, Caroline;
- Rossi-Semerano, Linda;
- Hentgen, Véronique;
- Piram, Maryam;
- Koné-Paut, Isabelle
Publication type:
Article
New insights into pediatric idiopathic pulmonary hemosiderosis: the French RespiRare® cohort.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-161
By:
- Taytard, Jessica;
- Nathan, Nadia;
- Blic, Jacques de;
- Fayon, Mickael;
- Epaud, Ralph;
- Deschildre, Antoine;
- Troussier, Françoise;
- Lubrano, Marc;
- Chiron, Raphaël;
- Reix, Philippe;
- Cros, Pierrick;
- Mahloul, Malika;
- Michon, Delphine;
- Clement, Annick;
- Corvol, Harriet
Publication type:
Article
The clinical relevance of outcomes used in late-onset Pompe disease: can we do better?
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-160
By:
- Lachmann, Robin;
- Schoser, Benedikt
Publication type:
Article
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-159
By:
- Sampaolo, Simone;
- Esposito, Teresa;
- Farina, Olimpia;
- Formicola, Daniela;
- Diodato, Daria;
- Gianfrancesco, Fernando;
- Cipullo, Federica;
- Cremone, Gaetana;
- Cirillo, Mario;
- Viscovo, Luca Del;
- Toscano, Antonio;
- Angelini, Corrado;
- Iorio, Giuseppe Di
Publication type:
Article
Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP).
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-158
By:
- Karle, Kathrin N.;
- Schüle, Rebecca;
- Klebe, Stephan;
- Otto, Susanne;
- Frischholz, Christian;
- Liepelt-Scarfone, Inga;
- Schöls, Ludger
Publication type:
Article
Development and validation of COMPASS: clinical evidence of orphan medicinal products - an assessment tool.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-157
By:
- Picavet, Eline;
- Cassiman, David;
- Aertgeerts, Bert;
- Simoens, Steven
Publication type:
Article
Fahr’s syndrome: literature review of current evidence.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-156
By:
- Saleem, Shafaq;
- Aslam, Hafiz Muhammad;
- Anwar, Maheen;
- Anwar, Shahzad;
- Saleem, Maria;
- Saleem, Anum;
- Rehmani, Muhammad Asim Khan
Publication type:
Article
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-155
By:
- Langereis, Eveline J.;
- Borgo, Andrea;
- Crushell, Ellen;
- Harmatz, Paul R.;
- van Hasselt, Peter M.;
- Jones, Simon A.;
- Kelly, Paula M.;
- Lampe, Christina;
- van der Lee, Johanna H.;
- Odent, Thierry;
- Sakkers, Ralph;
- Scarpa, Maurizio;
- Schafroth, Matthias U.;
- Struijs, Peter A.;
- Valayannopoulos, Vassili;
- White, Klane K.;
- Wijburg, Frits A.
Publication type:
Article
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-154
By:
- Symoens, Sofie;
- Malfait, Fransiska;
- D'hondt, Sanne;
- Callewaert, Bert;
- Dheedene, Annelies;
- Steyaert, Wouter;
- Bächinger, Hans Peter;
- De Paepe, Anne;
- Kayserili, Hulya;
- Coucke, Paul J.
Publication type:
Article
ACTH-independent macronodular adrenocortical hyperplasia reveals prevalent aberrant in vivo and in vitro responses to hormonal stimuli and coupling of arginine-vasopressin type 1a receptor to 11β-hydroxylase.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-142
By:
- Hofland, Johannes;
- Hofland, Leo J.;
- van Koetsveld, Peter M.;
- Steenbergen, Jacobie;
- de Herder, Wouter W.;
- van Eijck, Casper H.;
- de Krijger, Ronald R.;
- van Nederveen, Francien H.;
- van Aken, Maarten O.;
- de Groot, Johannes W.;
- Links, Thera P.;
- de Jong, Frank H.;
- Feelders, Richard A.
Publication type:
Article
The parallel lives of alpha<sub>1</sub>-antitrypsin deficiency and pulmonary alveolar proteinosis.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-153
By:
- Trapnell, Bruce C.;
- Luisetti, Maurizio
Publication type:
Article
Roll out of intraveneous artesunate under named patient programmes in the Netherlands, Belgium and France.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-150
By:
- Kreeftmeijer-Vegter, Annemarie Rosan;
- van Veldhuizen, Cornelis KW;
- de Vries, Peter J.
Publication type:
Article
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-147
By:
- Shuan-Pei Lin;
- Hsiang-Yu Lin;
- Tuen-Jen Wang;
- Chia-Ying Chang;
- Chia-Hui Lin;
- Sung-Fa Huang;
- Chia-Chen Tsai;
- Hsuan-Liang Liu;
- Joan Keutzer;
- Chih-Kuang Chuang
Publication type:
Article
Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-144
By:
- Trilck, Michaela;
- Hübner, Rayk;
- Seibler, Philip;
- Klein, Christine;
- Rolfs, Arndt;
- Frech, Moritz J.
Publication type:
Article
Regional consensus opinion for the management of Beta thalassemia major in the Arabian Gulf area.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-143
By:
- Qari, Mohamad H.;
- Wali, Yasser;
- Albagshi, Muneer H.;
- Alshahrani, Mohammad;
- Alzahrani, Azzah;
- Alhijji, Ibrahim A.;
- Almomen, Abdulkareem;
- Aljefri, Abdullah;
- Al Saeed, Hussain H.;
- Abdullah, Shaker;
- Rustumani, Ahmad Al;
- Mahour, Khoutir;
- Mousa, Shaker A.
Publication type:
Article
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-151
By:
- Yildiz, Yildiz;
- Hoffmann, Per;
- Dahl, Stefan vom;
- Breiden, Bernadette;
- Sandhoff, Roger;
- Niederau, Claus;
- Horwitz, Mia;
- Karlsson, Stefan;
- Filocamo, Mirella;
- Elstein, Deborah;
- Beck, Michael;
- Sandhoff, Konrad;
- Mengel, Eugen;
- Gonzalez, Maria C.;
- Nöthen, Markus M.;
- Sidransky, Ellen;
- Zimran, Ari;
- Mattheisen, Manuel
Publication type:
Article
Brachydactyly E: isolated or as a feature of a syndrome.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-141
By:
- Pereda, Arrate;
- Garin, Intza;
- Garcia-Barcina, Maria;
- Gener, Blanca;
- Beristain, Elena;
- Ibañez, Ane Miren;
- de Nanclares, Guiomar Perez
Publication type:
Article
Methodological challenges in monitoring new treatments for rare diseases: lessons from the cryopyrin-associated periodic syndrome registry.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-139
By:
- Tilson, Hugh;
- Primatesta, Paola;
- Kim, Dennis;
- Rauer, Barbara;
- Hawkins, Philip N.;
- Hoffman, Hal M.;
- Kuemmerle-Deschner, Jasmin;
- van der Pol, Tom;
- Walker, Ulrich A.
Publication type:
Article
Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-138
By:
- Berendse, Kevin;
- Ebberink, Merel S.;
- IJlst, Lodewijk;
- Poll-The, Bwee Tien;
- A. Wanders, Ronald J.;
- Waterham, Hans R.
Publication type:
Article
Erdheim-Chester Disease: a comprehensive review of the literature.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-137
By:
- Mazor, Roei D.;
- Manevich-Mazor, Mirra;
- Shoenfeld, Yehuda
Publication type:
Article
Associated factors and comorbidities in patients with pyoderma gangrenosum in Germany: a retrospective multicentric analysis in 259 patients.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-136
By:
- Ghazal, Philipp Al;
- Herberger, Katharina;
- Schaller, Jörg;
- Strölin, Anke;
- Hoff, Norman-Philipp;
- Goerge, Tobias;
- Roth, Hannelore;
- Rabe, Eberhard;
- Karrer, Sigrid;
- Renner, Regina;
- Maschke, Jan;
- Horn, Thomas;
- Hepp, Julia;
- Eming, Sabine;
- Wollina, Uwe;
- Zutt, Markus;
- Sick, Isabell;
- Splieth, Benno;
- Dill, Dorothea;
- Klode, Joachim
Publication type:
Article
The molecular mechanisms on glomangiopericytoma invasion.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-152
By:
- Qiang Sun;
- Chunye Zhang;
- Wantao Chen;
- Yue He
Publication type:
Article
The legal imperative for treating rare disorders.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-135
By:
- Hyry, Hanna I.;
- P. Roos, Jonathan C.;
- Manue, Jeremy;
- Cox, Timothy M.
Publication type:
Article
Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-132
By:
- Tampoia, Marilina;
- Bonamonte, Domenico;
- Filoni, Angela;
- Garofalo, Lucrezia;
- Morgese, Maria Grazia;
- Brunetti, Luigia;
- Di Giorgio, Chiara;
- Annicchiarico, Giuseppina
Publication type:
Article
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-148
By:
- Nizon, Mathilde;
- Ottolenghi, Chris;
- Valayannopoulos, Vassili;
- Arnoux, Jean-Baptiste;
- Barbier, Valérie;
- Habarou, Florence;
- Desguerre, Isabelle;
- Boddaert, Nathalie;
- Bonnefont, Jean-Paul;
- Acquaviva, Cécile;
- Benoist, Jean-François;
- Rabier, Daniel;
- Touati, Guy;
- de Lonlay, Pascale
Publication type:
Article
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-125
By:
- Sandbacka, Maria;
- Laivuori, Hannele;
- Freitas, Érika;
- Halttunen, Mervi;
- Jokimaa, Varpu;
- Morin-Papunen, Laure;
- Rosenberg, Carla;
- Aittomäki, Kristiina
Publication type:
Article