Works matching IS 17501172 AND DT 2009 AND VI 4

Results: 40

Osteopetrosis.

Published in:

2009

By:

Stark Z;
Savarirayan R;
Stark, Zornitza;
Savarirayan, Ravi

Publication type:

journal article

Distal Xq duplication and functional Xq disomy.

Published in:

2009

By:

Sanlaville D;
Schluth-Bolard C;
Turleau C;
Sanlaville, Damien;
Schluth-Bolard, Caroline;
Turleau, Catherine

Publication type:

journal article

Progressive familial intrahepatic cholestasis.

Published in:

2009

By:

Davit-Spraul A;
Gonzales E;
Baussan C;
Jacquemin E;
Davit-Spraul, Anne;
Gonzales, Emmanuel;
Baussan, Christiane;
Jacquemin, Emmanuel

Publication type:

journal article

Jacobsen syndrome.

Published in:

2009

By:

Mattina T;
Perrotta CS;
Grossfeld P;
Mattina, Teresa;
Perrotta, Concetta Simona;
Grossfeld, Paul

Publication type:

journal article

Pulmonary involvement in Kaposi sarcoma: correlation between imaging and pathology.

Published in:

2009

By:

Gasparetto TD;
Marchiori E;
Lourenço S;
Zanetti G;
Vianna AD;
Santos AA;
Nobre LF;
Gasparetto, Taisa Davaus;
Marchiori, Edson;
Lourenço, Sílvia;
Zanetti, Gláucia;
Vianna, Alberto Domingues;
Santos, Alair A S M D;
Nobre, Luiz Felipe

Publication type:

journal article

Patent arterial duct.

Published in:

2009

By:

Forsey JT;
Elmasry OA;
Martin RP;
Forsey, Jonathan T;
Elmasry, Ola A;
Martin, Robin P

Publication type:

journal article

No difference in between-country variability in use of newly approved orphan and non- orphan medicinal products--a pilot study.

Published in:

2009

By:

Stolk P;
Heemstra HE;
Leufkens HG;
Bloechl-Daum B;
Heerdink ER;
Stolk, Pieter;
Heemstra, Harald E;
Leufkens, Hubert G M;
Bloechl-Daum, Brigitte;
Heerdink, Eibert R

Publication type:

journal article

The exstrophy-epispadias complex.

Published in:

2009

By:

Ebert AK;
Reutter H;
Ludwig M;
Rösch WH;
Ebert, Anne-Karoline;
Reutter, Heiko;
Ludwig, Michael;
Rösch, Wolfgang H

Publication type:

journal article

Familial adenomatous polyposis.

Published in:

2009

By:

Half E;
Bercovich D;
Rozen P;
Half, Elizabeth;
Bercovich, Dani;
Rozen, Paul

Publication type:

journal article

Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring.

Published in:

2009

By:

Hoffmann B;
Hoffmann, Björn

Publication type:

journal article

Erythropoietic protoporphyria.

Published in:

2009

By:

Lecha M;
Puy H;
Deybach JC;
Lecha, Mario;
Puy, Hervé;
Deybach, Jean-Charles

Publication type:

journal article

SP-D counteracts GM-CSF-mediated increase of granulomaformation by alveolar macrophages in lysinuric protein intolerance.

Published in:: Orphanet Journal of Rare Diseases, 2009, v. 4, p. 29, doi. 10.1186/1750-1172-4-29
Publication type:: Article

A novel mutation causing mild, atypical fumarylacetoacetasedeficiency (Tyrosinemia type I): a case report.

Published in:: Orphanet Journal of Rare Diseases, 2009, v. 4, p. 28, doi. 10.1186/1750-1172-4-28
Publication type:: Article

No difference in between-country variability in use of newlyapproved orphan and non- orphan medicinal products - a pilot study.

Published in:: Orphanet Journal of Rare Diseases, 2009, v. 4, p. 27, doi. 10.1186/1750-1172-4-27
Publication type:: Article

Incidence and classification of pediatric diffuse parenchymal lungdiseases in Germany.

Published in:: Orphanet Journal of Rare Diseases, 2009, v. 4, p. 26, doi. 10.1186/1750-1172-4-26
Publication type:: Article

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.

Published in:: Orphanet Journal of Rare Diseases, 2009, v. 4, p. 25, doi. 10.1186/1750-1172-4-25
Publication type:: Article

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.

Published in:: Orphanet Journal of Rare Diseases, 2009, v. 4, p. 24, doi. 10.1186/1750-1172-4-24
Publication type:: Article

The Exstrophy-epispadias complex.

Published in:: Orphanet Journal of Rare Diseases, 2009, v. 4, p. 23, doi. 10.1186/1750-1172-4-23
Publication type:: Article

Familial adenomatous polyposis.

Published in:: Orphanet Journal of Rare Diseases, 2009, v. 4, p. 22, doi. 10.1186/1750-1172-4-22
Publication type:: Article

Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring.

Published in:: Orphanet Journal of Rare Diseases, 2009, v. 4, p. 21, doi. 10.1186/1750-1172-4-21
Publication type:: Article

Arterial tortuosity syndrome in two Italian paediatric patients.

Published in:: Orphanet Journal of Rare Diseases, 2009, v. 4, p. 20, doi. 10.1186/1750-1172-4-20
Publication type:: Article

Erythropoietic protoporphyria.

Published in:: Orphanet Journal of Rare Diseases, 2009, v. 4, p. 19, doi. 10.1186/1750-1172-4-19
Publication type:: Article

Pulmonary involvement in Kaposi sarcoma: correlation between imaging and pathology.

Published in:: Orphanet Journal of Rare Diseases, 2009, v. 4, p. 18, doi. 10.1186/1750-1172-4-18
Publication type:: Article

Patent arterial duct.

Published in:: Orphanet Journal of Rare Diseases, 2009, v. 4, p. 17, doi. 10.1186/1750-1172-4-17
Publication type:: Article

Neurofibromatosis type 2 (NF2): A clinical and molecular review.

Published in:: Orphanet Journal of Rare Diseases, 2009, v. 4, p. 16, doi. 10.1186/1750-1172-4-16
Publication type:: Article

Triptans and troponin: a case report.

Published in:: Orphanet Journal of Rare Diseases, 2009, v. 4, p. 15, doi. 10.1186/1750-1172-4-15
Publication type:: Article

Cardiac magnetic resonance imaging in Alström syndrome.

Published in:: Orphanet Journal of Rare Diseases, 2009, v. 4, p. 14, doi. 10.1186/1750-1172-4-14
Publication type:: Article

Multisegmental spondylitis due to Tropheryma whipplei: Case report.

Published in:

Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-13

By:

Spoerl, David;
Bär, Diego;
Cooper, Julian;
Vogt, Thomas;
Tyndall, Alan;
Walker, Ulrich A.

Publication type:

Article

Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report.

Published in:

Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-12

By:

Denden, Sabri;
Zorzetto, Michele;
Amri, Fethi;
Knani, Jalel;
Ottaviani, Stefania;
Scabini, Roberta;
Gorrini, Marina;
Ferrarotti, Ilaria;
Campo, Ilaria;
Chibani, Jemni Ben;
Khelil, Amel Haj;
Luisetti, Maurizio

Publication type:

Article

Sheldon-Hall syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-11

By:

Toydemir, Reha M.;
Bamshad, Michael J.

Publication type:

Article

Early treatment with noninvasive positive pressure ventilation prolongs survival in Amyotrophic Lateral Sclerosis patients with nocturnal respiratory insufficiency.

Published in:

Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-10

By:

Carratù, Pierluigi;
Spicuzza, Lucia;
Cassano, Anna;
Maniscalco, Mauro;
Gadaleta, Felice;
Lacedonia, Donato;
Scoditti, Cristina;
Boniello, Ester;
Di Maria, Giuseppe;
Resta, Onofrio

Publication type:

Article

Jacobsen syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-9

By:

Mattina, Teresa;
Perrotta, Concetta Simona;
Grossfeld, Paul

Publication type:

Article

Pulmonary hemorrhage syndrome associated with dengue fever, High-resolution computed tomography findings: a case report.

Published in:

Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-8

By:

Marchiori, Edson;
Ferreira, José Luiz N.;
Bittencourt, Carolina N.;
de Araújo Neto, César A.;
Zanetti, Gláucia;
Mano, Cláudia M.;
Santos, Alair A. S. D.;
Vianna, Alberto D.

Publication type:

Article

Corneal dystrophies.

Published in:

Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-7

By:

Klintworth, Gordon K.

Publication type:

Article

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia.

Published in:

Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-6

By:

Reibel, Amélie;
Manière, Marie-Cécile;
Clauss, François;
Droz, Dominique;
Alembik, Yves;
Mornet, Etienne;
Bloch-Zupan, Agnès

Publication type:

Article

Osteopetrosis.

Published in:

Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-5

By:

Stark, Zornitza;
Savarirayan, Ravi

Publication type:

Article

Distal Xq duplication and functional Xq disomy.

Published in:

Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-4

By:

Sanlaville, Damien;
Schluth-Bolard, Caroline;
Turleau, Catherine

Publication type:

Article

Amyotrophic lateral sclerosis.

Published in:

Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-3

By:

Wijesekera, Lokesh C.;
Leigh, P. Nigel

Publication type:

Article

Tetralogy of Fallot.

Published in:

Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-2

By:

Bailliard, Frederique;
Anderson, Robert H.

Publication type:

Article

Progressive familial intrahepatic cholestasis.

Published in:

Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-1

By:

Davit-Spraul, Anne;
Gonzales, Emmanuel;
Baussan, Christiane;
Jacquemin, Emmanuel

Publication type:

Article