Works matching IS 17501172 AND DT 2007 AND VI 2

Results: 49

Alstrom syndrome (OMIM 203800): a case report and literature review.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 49, doi. 10.1186/1750-1172-2-49

By:

Joy, Tisha;
Cao, Henian;
Black, Graeme;
Malik, Rayaz;
Charlton-Menys, Valentine;
Hegele, Robert A.;
Durrington, Paul N.

Publication type:

Article

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 48, doi. 10.1186/1750-1172-2-48

By:

Torres, Rosa J.;
Puig, Juan G.

Publication type:

Article

Anophthalmia and microphthalmia.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 47, doi. 10.1186/1750-1172-2-47

By:

Verma, Amit S.;
FitzPatrick, David R.

Publication type:

Article

Sarcoidosis.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 46, doi. 10.1186/1750-1172-2-46

By:

Nunes, Hilario;
Bouvry, Diane;
Soler, Paul;
Valeyre, Dominique

Publication type:

Article

Arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 45, doi. 10.1186/1750-1172-2-45

By:

Thiene, Gaetano;
Corrado, Domenico;
Basso, Cristina

Publication type:

Article

Myasthenia gravis.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 44, doi. 10.1186/1750-1172-2-44

By:

Juel, Vern C.;
Massey, Janice M.

Publication type:

Article

Oculocutaneous albinism.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 43, doi. 10.1186/1750-1172-2-43

By:

Grønskov, Karen;
Ek, Jakob;
Brondum-Nielsen, Karen

Publication type:

Article

Aorto-ventricular tunnel.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 41, doi. 10.1186/1750-1172-2-41

By:

McKay, Roxane

Publication type:

Article

Hypophosphatasia.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 40, doi. 10.1186/1750-1172-2-40

By:

Mornet, Etienne

Publication type:

Article

Hereditary sensory and autonomic neuropathies: types II, III, and IV.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 39, doi. 10.1186/1750-1172-2-39

By:

Axelrod, Felicia B.;
Simson, Gabrielle Gold-von

Publication type:

Article

Further phenotypic delineation of subtelomeric (terminal) 4q deletion with emphasis on intracranial and reproductive anatomy.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 9, doi. 10.1186/1750-1172-2-9

By:

Sills, Eric Scott;
Burns, M. J.;
Parker, Laurinda D.;
Carroll, Lisa P.;
Kephart, Lisa L.;
Dyer, C. S.;
Papenhausen, Peter R.;
Davis, Jessica G.

Publication type:

Article

Holoprosencephaly.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 8, doi. 10.1186/1750-1172-2-8

By:

Dubourg, Christèle;
Bendavid, Claude;
Pasquier, Laurent;
Henry, Catherine;
Odent, Sylvie;
David, Véronique

Publication type:

Article

Cone rod dystrophies.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 7, doi. 10.1186/1750-1172-2-7

By:

Hamel, Christian P.

Publication type:

Article

Osteosarcoma (Osteogenic sarcoma).

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 6, doi. 10.1186/1750-1172-2-6

By:

Picci, Piero

Publication type:

Article

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 5, doi. 10.1186/1750-1172-2-5

By:

Gruhn, Bernd;
Seidel, Joerg;
Zintl, Felix;
Varon, Raymonda;
Tönnies, Holger;
Neitzel, Heidemarie;
Bechtold, Astrid;
Hoehn, Holger;
Schindler, Detlev

Publication type:

Article

Mowat-Wilson syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 42, doi. 10.1186/1750-1172-2-42

By:

Garavelli, Livia;
Mainardi, Paola Cerruti

Publication type:

Article

Noonan syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 4, doi. 10.1186/1750-1172-2-4

By:

Van der Burgt, Ineke

Publication type:

Article

Idiopathic (primary) achalasia.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 38, doi. 10.1186/1750-1172-2-38

By:

Farrokhi, Farnoosh;
Vaezi, Michael F.

Publication type:

Article

Hypereosinophilic syndromes.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 37, doi. 10.1186/1750-1172-2-37

By:

Roufosse, Florence E.;
Goldman, Michel;
Cogan, Elie

Publication type:

Article

Sotos syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 36, doi. 10.1186/1750-1172-2-36

By:

Baujat, Geneviève;
Cormier-Daire, Valérie

Publication type:

Article

Acute graft versus host disease.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 35, doi. 10.1186/1750-1172-2-35

By:

Jacobsohn, David A.;
Vogelsang, Georgia B.

Publication type:

Article

Sweet's syndrome -- a comprehensive review of an acute febrile neutrophilic dermatosis.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 34, doi. 10.1186/1750-1172-2-34

By:

Cohen, Philip R.

Publication type:

Article

Anorectal malformations.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 33, doi. 10.1186/1750-1172-2-33

By:

Levitt, Marc A.;
Peña, Alberto

Publication type:

Article

Ehlers-Danlos syndrome type IV.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 32, doi. 10.1186/1750-1172-2-32

By:

Germain, Dominique P.

Publication type:

Article

Multi-minicore Disease.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 31, doi. 10.1186/1750-1172-2-31

By:

Jungbluth, Heinz

Publication type:

Article

Loss-of-function genetic diseases and the concept of pharmaceutical targets.

Published in:

2007

By:

Ségalat, Laurent;
Ségalat, Laurnet

Publication type:

journal article

Essential thrombocythemia.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 3, doi. 10.1186/1750-1172-2-3

By:

Brière, Jean B.

Publication type:

Article

Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 1, doi. 10.1186/1750-1172-2-29

By:

Rosmorduc, Olivier;
Poupon, Raoul

Publication type:

Article

Fibromuscular dysplasia.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 28, doi. 10.1186/1750-1172-2-28

By:

Plouin, Pierre-François;
Perdu, Jérôme;
La Batide-Alanore, Agnès;
Boutouyrie, Pierre;
Gimenez-Roqueplo, Anne-Paule;
Jeunemaitre, Xavier

Publication type:

Article

Ellis-Van Creveld syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 27, doi. 10.1186/1750-1172-2-27

By:

Baujat, Geneviève;
Le Merrer, Martine

Publication type:

Article

Intrahepatic cholestasis of pregnancy.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 26, doi. 10.1186/1750-1172-2-26

By:

Pusl, Thomas;
Beuers, Ulrich

Publication type:

Article

Central core disease.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 25, doi. 10.1186/1750-1172-2-25

By:

Jungbluth, Heinz

Publication type:

Article

Oesophageal atresia.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 24, doi. 10.1186/1750-1172-2-24

By:

Spitz, Lewis

Publication type:

Article

Hypoplastic left heart syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 23, doi. 10.1186/1750-1172-2-23

By:

Connor, Jean Anne;
Thiagarajan, Ravi

Publication type:

Article

Paraneoplastic neurological syndromes.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 22, doi. 10.1186/1750-1172-2-22

By:

Honnorat, Jérôme;
Antoine, Jean-Christophe

Publication type:

Article

Malignant hyperthermia.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 21, doi. 10.1186/1750-1172-2-21

By:

Rosenberg, Henry;
Davis, Mark;
James, Danielle;
Pollock, Neil;
Stowell, Kathryn

Publication type:

Article

Intestinal epithelial dysplasia (tufting enteropathy).

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 20, doi. 10.1186/1750-1172-2-20

By:

Goulet, Olivier;
Salomon, Julie;
Ruemmele, Frank;
Patey-Mariaud de Serres, Natacha;
Brousse, Nicole

Publication type:

Article

Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 2, doi. 10.1186/1750-1172-2-2

By:

Al Kaissi, Ali;
Grill, Franz;
Safi, Hatem;
Ghachem, Maher Ben;
Chehida, Farid Ben;
Klaushofer, Klaus

Publication type:

Article

Pyoderma gangrenosum -- a review.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 19, doi. 10.1186/1750-1172-2-19

By:

Wollina, Uwe

Publication type:

Article

Craniopharyngioma.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 18, doi. 10.1186/1750-1172-2-18

By:

Garnett, Matthew R.;
Puget, Stéphanie;
Grill, Jacques;
Sainte-Rose, Christian

Publication type:

Article

Amelogenesis imperfecta.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 17, doi. 10.1186/1750-1172-2-17

By:

Crawford, Peter J. M.;
Aldred, Michael;
Bloch-Zupan, Agnes

Publication type:

Article

Inborn errors in the metabolism of glutathione.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 16, doi. 10.1186/1750-1172-2-16

By:

Ristoff, Ellinor;
Larsson, Agne

Publication type:

Article

Cirrhotic cardiomyopathy.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 15, doi. 10.1186/1750-1172-2-15

By:

Soon Koo Baik;
Fouad, Tamer R.;
Lee, Samuel S.

Publication type:

Article

Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 14, doi. 10.1186/1750-1172-2-14

By:

Ceruti, Michele;
Rodi, Giuseppe;
Stella, Giulia M.;
Adami, Andrea;
Bolongaro, Antonia;
Baritussio, Aldo;
Pozzi, Ernesto;
Luisetti, Maurizio

Publication type:

Article

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 13, doi. 10.1186/1750-1172-2-13

By:

Morcel, Karine;
Camborieux, Laure;
Guerrier, Daniel

Publication type:

Article

Neonatal diabetes mellitus: a disease linked to multiple mechanisms.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 12, doi. 10.1186/1750-1172-2-12

By:

Polak, Michel;
Cavé, Hélène

Publication type:

Article

Cardiac tumours in children.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 11, doi. 10.1186/1750-1172-2-11

By:

Uzun, Orhan;
Wilson, Dirk G.;
Vujanic, Gordon M.;
Parsons, Jonathan M.;
De Giovanni, Joseph V.

Publication type:

Article

Health status of adults with Short Stature: A comparison with the normal population and one well-known chronic disease (Rheumatoid Arthritis).

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 10, doi. 10.1186/1750-1172-2-10

By:

Johansen, Heidi;
Andresen, Inger-Lise;
Naess, Eva E.;
Hagen, Kare Birger

Publication type:

Article

Hereditary chronic pancreatitis.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 1, doi. 10.1186/1750-1172-2-1

By:

Rosendahl, Jonas;
Bödeker, Hans;
Mössner, Joachim;
Teich, Niels

Publication type:

Article