Works matching IS 17501172 AND DT 2006 AND VI 1

Results: 51

Kikuchi-Fujimoto disease.

Published in:: Orphanet Journal of Rare Diseases, 2006, v. 1, p. 18
Publication type:: Article

Premature ovarian failure.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 9, doi. 10.1186/1750-1172-1-9

By:

Beck-Peccoz, Paolo;
Persani, Luca

Publication type:

Article

Complete atrioventricular canal.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 8, doi. 10.1186/1750-1172-1-8

By:

Calabrò, Raffaele;
Limongelli, Giuseppe

Publication type:

Article

Dopamine beta-hydroxylase deficiency.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 7, doi. 10.1186/1750-1172-1-7

By:

Senard, Jean-Michel;
Rouet, Philippe

Publication type:

Article

Systemic lupus erythematosus.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 6, doi. 10.1186/1750-1172-1-6

By:

Manson, Jessica J.;
Rahman, Anisur

Publication type:

Article

Coronary arterial fistulas.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 51, doi. 10.1186/1750-1172-1-51

By:

Qureshi, Shakeel A.

Publication type:

Article

KBG syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 50, doi. 10.1186/1750-1172-1-50

By:

Brancati, Francesco;
Sarkozy, Anna;
Dallapiccola, Bruno

Publication type:

Article

Otodental syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 5, doi. 10.1186/1750-1172-1-5

By:

Bloch-Zupan, Agnès;
Goodman, Jane R.

Publication type:

Article

Pheochromocytomas and secreting paragangliomas.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 49, doi. 10.1186/1750-1172-1-49

By:

Plouin, Pierre-François;
Gimenez-Roqueplo, Anne-Paule

Publication type:

Article

Early onset torsion dystonia (Oppenheim's dystonia).

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 48, doi. 10.1186/1750-1172-1-48

By:

Kamm, Christoph

Publication type:

Article

Autosomal recessive cerebellar ataxias.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 47, doi. 10.1186/1750-1172-1-47

By:

Palau, Francesc;
Espinós, Carmen

Publication type:

Article

Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy).

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 46, doi. 10.1186/1750-1172-1-46

By:

Lanza, François

Publication type:

Article

Multiple endocrine neoplasia type 2.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 45, doi. 10.1186/1750-1172-1-45

By:

Marini, Francesca;
Falchetti, Alberto;
Del Monte, Francesca;
Sala, Silvia Carbonell;
Tognarini, Isabella;
Luzi, Ettore;
Brandi, Maria Luisa

Publication type:

Article

Mesothelioma mortality in Europe: impact of asbestos consumption and simian virus 40.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 44, doi. 10.1186/1750-1172-1-44

By:

Leithner, Katharina;
Leithner, Andreas;
Clar, Heimo;
Weinhaeusel, Andreas;
Radl, Roman;
Krippl, Peter;
Rehak, Peter;
Windhager, Reinhard;
Haas, Oskar A.;
Olschewski, Horst

Publication type:

Article

Congenital pulmonary lymphangiectasia.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 43, doi. 10.1186/1750-1172-1-43

By:

Bellini, Carlo;
Boccardo, Francesco;
Campisi, Corradino;
Bonioli, Eugenio

Publication type:

Article

Klinefelter syndrome and other sex chromosomal aneuploidies.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 42, doi. 10.1186/1750-1172-1-42

By:

Visootsak, Jeannie;
Graham Jr., John M.

Publication type:

Article

Primary sclerosing cholangitis.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 41, doi. 10.1186/1750-1172-1-41

By:

Worthington, Joy;
Chapman, Roger

Publication type:

Article

Retinitis pigmentosa.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 40, doi. 10.1186/1750-1172-1-40

By:

Hamel, Christian

Publication type:

Article

Naxos disease: Cardiocutaneous syndrome due to cell adhesion defect.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 4, doi. 10.1186/1750-1172-1-4

By:

Protonotarios, Nikos;
Tsatsopoulou, Adalena

Publication type:

Article

Foetal and neonatal alloimmune thrombocytopaenia.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 39, doi. 10.1186/1750-1172-1-39

By:

Kaplan, Cecile

Publication type:

Article

Multiple endocrine neoplasia type 1.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 38, doi. 10.1186/1750-1172-1-38

By:

Marini, Francesca;
Falchetti, Alberto;
Del Monte, Francesca;
Sala, Silvia Carbonell;
Gozzini, Alessia;
Luzi, Ettore;
Brandi, Maria Luisa

Publication type:

Article

Ollier disease.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 37, doi. 10.1186/1750-1172-1-37

By:

Silve, Caroline;
Jüppner, Harald

Publication type:

Article

Plummer-Vinson syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 36, doi. 10.1186/1750-1172-1-36

By:

Novacek, Gottfried

Publication type:

Article

Brugada syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 35, doi. 10.1186/1750-1172-1-35

By:

Napolitano, Carlo;
Priori, Silvia G.

Publication type:

Article

CHARGE syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 34, doi. 10.1186/1750-1172-1-34

By:

Blake, Kim D.;
Prasad, Chitra

Publication type:

Article

Cri du Chat syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 33, doi. 10.1186/1750-1172-1-33

By:

Mainardi, Paola Cerruti

Publication type:

Article

Congenital Cataracts -- Facial Dysmorphism -- Neuropathy.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 32, doi. 10.1186/1750-1172-1-32

By:

Kalaydjieva, Luba

Publication type:

Article

Retinoblastoma.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 31, doi. 10.1186/1750-1172-1-31

By:

Aerts, Isabelle;
Rouic, Livia Lumbroso-Le;
Gauthier-Villars, Marion;
Brisse, Hervé;
Doz, François;
Desjardins, Laurence

Publication type:

Article

Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17).

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 30, doi. 10.1186/1750-1172-1-30

By:

Wszolek, Zbigniew K.;
Tsuboi, Yoshio;
Ghetti, Bernardino;
Pickering-Brown, Stuart;
Baba, Yasuhiko;
Cheshire, William P.

Publication type:

Article

Celiac disease.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 3, doi. 10.1186/1750-1172-1-3

By:

Holtmeier, Wolfgang;
Caspary, Wolfgang F.

Publication type:

Article

Walker-Warburg syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 29, doi. 10.1186/1750-1172-1-29

By:

Vajsar, Jiri;
Schachter, Harry

Publication type:

Article

Biliary atresia.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 28, doi. 10.1186/1750-1172-1-28

By:

Chardot, Christophe

Publication type:

Article

Cardiomyopathy, familial dilated.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 27, doi. 10.1186/1750-1172-1-27

By:

Taylor, Matthew R. G.;
Carniel, Elisa;
Mestroni, Luisa

Publication type:

Article

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 26, doi. 10.1186/1750-1172-1-26

By:

Van Buggenhout, Griet;
Fryns, Jean-Pierre

Publication type:

Article

Hypersensitivity pneumonitis.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 25, doi. 10.1186/1750-1172-1-25

By:

Lacasse, Yves;
Cormier, Yvon

Publication type:

Article

Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 24, doi. 10.1186/1750-1172-1-24

By:

Girschick, H. J.;
Schneider, P.;
Haubitz, I.;
Hiort, O.;
Collmann, H.;
Beer, M.;
Shin, Y. S.;
Seyberth, H. W.

Publication type:

Article

Nasopharyngeal carcinoma.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 23, doi. 10.1186/1750-1172-1-23

By:

Brennan, Bernadette

Publication type:

Article

Microvillous inclusion disease (microvillous atrophy).

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 22, doi. 10.1186/1750-1172-1-22

By:

Ruemmele, Frank M.;
Schmitz, Jacques;
Goulet, Olivier

Publication type:

Article

Carney complex (CNC).

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 21, doi. 10.1186/1750-1172-1-21

By:

Bertherat, Jérôme

Publication type:

Article

Congenital contractural arachnodactyly (Beals syndrome).

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 20, doi. 10.1186/1750-1172-1-20

By:

Tunçbilek, Ergül;
Alanay, Yasemin

Publication type:

Article

Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF).

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 2, doi. 10.1186/1750-1172-1-2

By:

Ehrlich, Melanie;
Jackson, Kelly;
Weemaes, Corry

Publication type:

Article

Pfeiffer syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 19, doi. 10.1186/1750-1172-1-19

By:

Vogels, Annick;
Fryns, Jean-Pierre

Publication type:

Article

Imerslund-Gräsbeck syndrome (selective vitamin B<sub>12</sub> malabsorption with proteinuria).

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 1, doi. 10.1186/1750-1172-1-17

By:

Gräsbeck, Ralph

Publication type:

Article

Lowe syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 16, doi. 10.1186/1750-1172-1-16

By:

Loi, Mario

Publication type:

Article

Alpha thalassaemia-mental retardation, X linked.

Published in:

2006

By:

Gibbons, Richard

Publication type:

journal article

Thromboangiitis obliterans (Buerger's disease).

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 14, doi. 10.1186/1750-1172-1-14

By:

Arkkila, Perttu E. T.

Publication type:

Article

Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 13, doi. 10.1186/1750-1172-1-13

By:

Haas, Dorothea;
Hoffmann, Georg F.

Publication type:

Article

Solitary median maxillary central incisor (SMMCI) syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 12, doi. 10.1186/1750-1172-1-12

By:

Hall, Roger K.

Publication type:

Article

Idiopathic chronic eosinophilic pneumonia.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 11, doi. 10.1186/1750-1172-1-11

By:

Marchand, Eric;
Cordier, Jean-François

Publication type:

Article

Glanzmann thrombasthenia.

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 10, doi. 10.1186/1750-1172-1-10

By:

Nurden, Alan T.

Publication type:

Article