| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Amyotrophic lateral sclerosis
|
Wijesekera, Lokesh C
|
|
2009
|
4 |
1 |
|
artikel
|
| 2 |
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report
|
Cassiman, David
|
|
2009
|
4 |
1 |
|
artikel
|
| 3 |
Arterial tortuosity syndrome in two Italian paediatric patients
|
Ritelli, Marco
|
|
2009
|
4 |
1 |
|
artikel
|
| 4 |
Cardiac magnetic resonance imaging in Alström syndrome
|
Loudon, Margaret A
|
|
2009
|
4 |
1 |
|
artikel
|
| 5 |
Corneal dystrophies
|
Klintworth, Gordon K
|
|
2009
|
4 |
1 |
|
artikel
|
| 6 |
Distal Xq duplication and functional Xq disomy
|
Sanlaville, Damien
|
|
2009
|
4 |
1 |
|
artikel
|
| 7 |
Early treatment with noninvasive positive pressure ventilation prolongs survival in Amyotrophic Lateral Sclerosis patients with nocturnal respiratory insufficiency
|
Carratù, Pierluigi
|
|
2009
|
4 |
1 |
|
artikel
|
| 8 |
Erythropoietic protoporphyria
|
Lecha, Mario
|
|
2009
|
4 |
1 |
|
artikel
|
| 9 |
Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring
|
Hoffmann, Björn
|
|
2009
|
4 |
1 |
|
artikel
|
| 10 |
Familial adenomatous polyposis
|
Half, Elizabeth
|
|
2009
|
4 |
1 |
|
artikel
|
| 11 |
Incidence and classification of pediatric diffuse parenchymal lung diseases in Germany
|
Griese, Matthias
|
|
2009
|
4 |
1 |
|
artikel
|
| 12 |
Jacobsen syndrome
|
Mattina, Teresa
|
|
2009
|
4 |
1 |
|
artikel
|
| 13 |
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients
|
Drera, Bruno
|
|
2009
|
4 |
1 |
|
artikel
|
| 14 |
Multisegmental spondylitis due to Tropheryma whipplei: Case report
|
Spoerl, David
|
|
2009
|
4 |
1 |
|
artikel
|
| 15 |
Neurofibromatosis type 2 (NF2): A clinical and molecular review
|
Evans, D Gareth R
|
|
2009
|
4 |
1 |
|
artikel
|
| 16 |
No difference in between-country variability in use of newly approved orphan and non- orphan medicinal products - a pilot study
|
Stolk, Pieter
|
|
2009
|
4 |
1 |
|
artikel
|
| 17 |
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia
|
Reibel, Amélie
|
|
2009
|
4 |
1 |
|
artikel
|
| 18 |
Osteopetrosis
|
Stark, Zornitza
|
|
2009
|
4 |
1 |
|
artikel
|
| 19 |
Patent arterial duct
|
Forsey, Jonathan T
|
|
2009
|
4 |
1 |
|
artikel
|
| 20 |
Progressive familial intrahepatic cholestasis
|
Davit-Spraul, Anne
|
|
2009
|
4 |
1 |
|
artikel
|
| 21 |
Pulmonary hemorrhage syndrome associated with dengue fever, High-resolution computed tomography findings: a case report
|
Marchiori, Edson
|
|
2009
|
4 |
1 |
|
artikel
|
| 22 |
Pulmonary involvement in Kaposi sarcoma: correlation between imaging and pathology
|
Gasparetto, Taisa Davaus
|
|
2009
|
4 |
1 |
|
artikel
|
| 23 |
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports
|
Bernardini, Laura
|
|
2009
|
4 |
1 |
|
artikel
|
| 24 |
Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report
|
Denden, Sabri
|
|
2009
|
4 |
1 |
|
artikel
|
| 25 |
Sheldon-Hall syndrome
|
Toydemir, Reha M
|
|
2009
|
4 |
1 |
|
artikel
|
| 26 |
SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance
|
Douda, David N
|
|
2009
|
4 |
1 |
|
artikel
|
| 27 |
Tetralogy of Fallot
|
Bailliard, Frederique
|
|
2009
|
4 |
1 |
|
artikel
|
| 28 |
The Exstrophy-epispadias complex
|
Ebert, Anne-Karoline
|
|
2009
|
4 |
1 |
|
artikel
|
| 29 |
Triptans and troponin: a case report
|
Weder, Claudia R
|
|
2009
|
4 |
1 |
|
artikel
|
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