| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Alpha thalassaemia-mental retardation, X linked
|
Gibbons, Richard
|
|
2006
|
1 |
1 |
|
artikel
|
| 2 |
Autosomal recessive cerebellar ataxias
|
Palau, Francesc
|
|
2006
|
1 |
1 |
|
artikel
|
| 3 |
Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy)
|
Lanza, François
|
|
2006
|
1 |
1 |
|
artikel
|
| 4 |
Biliary atresia
|
Chardot, Christophe
|
|
2006
|
1 |
1 |
|
artikel
|
| 5 |
Brugada syndrome
|
Napolitano, Carlo
|
|
2006
|
1 |
1 |
|
artikel
|
| 6 |
Cardiomyopathy, familial dilated
|
Taylor, Matthew RG
|
|
2006
|
1 |
1 |
|
artikel
|
| 7 |
Carney complex (CNC)
|
Bertherat, Jérôme
|
|
2006
|
1 |
1 |
|
artikel
|
| 8 |
Celiac disease
|
Holtmeier, Wolfgang
|
|
2006
|
1 |
1 |
|
artikel
|
| 9 |
CHARGE syndrome
|
Blake, Kim D
|
|
2006
|
1 |
1 |
|
artikel
|
| 10 |
Complete atrioventricular canal
|
Calabrò, Raffaele
|
|
2006
|
1 |
1 |
|
artikel
|
| 11 |
Congenital Cataracts – Facial Dysmorphism – Neuropathy
|
Kalaydjieva, Luba
|
|
2006
|
1 |
1 |
|
artikel
|
| 12 |
Congenital contractural arachnodactyly (Beals syndrome)
|
Tunçbilek, Ergül
|
|
2006
|
1 |
1 |
|
artikel
|
| 13 |
Congenital pulmonary lymphangiectasia
|
Bellini, Carlo
|
|
2006
|
1 |
1 |
|
artikel
|
| 14 |
Coronary arterial fistulas
|
Qureshi, Shakeel A
|
|
2006
|
1 |
1 |
|
artikel
|
| 15 |
Cri du Chat syndrome
|
Cerruti Mainardi, Paola
|
|
2006
|
1 |
1 |
|
artikel
|
| 16 |
Dopamine beta-hydroxylase deficiency
|
Senard, Jean-Michel
|
|
2006
|
1 |
1 |
|
artikel
|
| 17 |
Early onset torsion dystonia (Oppenheim's dystonia)
|
Kamm, Christoph
|
|
2006
|
1 |
1 |
|
artikel
|
| 18 |
Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia
|
Girschick, HJ
|
|
2006
|
1 |
1 |
|
artikel
|
| 19 |
Foetal and neonatal alloimmune thrombocytopaenia
|
Kaplan, Cecile
|
|
2006
|
1 |
1 |
|
artikel
|
| 20 |
Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
|
Wszolek, Zbigniew K
|
|
2006
|
1 |
1 |
|
artikel
|
| 21 |
Glanzmann thrombasthenia
|
Nurden, Alan T
|
|
2006
|
1 |
1 |
|
artikel
|
| 22 |
Hypersensitivity pneumonitis
|
Lacasse, Yves
|
|
2006
|
1 |
1 |
|
artikel
|
| 23 |
Idiopathic chronic eosinophilic pneumonia
|
Marchand, Eric
|
|
2006
|
1 |
1 |
|
artikel
|
| 24 |
Imerslund-Gräsbeck syndrome (selective vitamin B12 malabsorption with proteinuria)
|
Gräsbeck, Ralph
|
|
2006
|
1 |
1 |
|
artikel
|
| 25 |
Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)
|
Ehrlich, Melanie
|
|
2006
|
1 |
1 |
|
artikel
|
| 26 |
KBG syndrome
|
Brancati, Francesco
|
|
2006
|
1 |
1 |
|
artikel
|
| 27 |
Kikuchi-Fujimoto disease
|
Bosch, Xavier
|
|
2006
|
1 |
1 |
|
artikel
|
| 28 |
Klinefelter syndrome and other sex chromosomal aneuploidies
|
Visootsak, Jeannie
|
|
2006
|
1 |
1 |
|
artikel
|
| 29 |
Lowe syndrome
|
Loi, Mario
|
|
2006
|
1 |
1 |
|
artikel
|
| 30 |
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)
|
Van Buggenhout, Griet
|
|
2006
|
1 |
1 |
|
artikel
|
| 31 |
Mesothelioma mortality in Europe: impact of asbestos consumption and simian virus 40
|
Leithner, Katharina
|
|
2006
|
1 |
1 |
|
artikel
|
| 32 |
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome
|
Haas, Dorothea
|
|
2006
|
1 |
1 |
|
artikel
|
| 33 |
Microvillous inclusion disease (microvillous atrophy)
|
Ruemmele, Frank M
|
|
2006
|
1 |
1 |
|
artikel
|
| 34 |
Multiple endocrine neoplasia type 2
|
Marini, Francesca
|
|
2006
|
1 |
1 |
|
artikel
|
| 35 |
Multiple endocrine neoplasia type 1
|
Marini, Francesca
|
|
2006
|
1 |
1 |
|
artikel
|
| 36 |
Nasopharyngeal carcinoma
|
Brennan, Bernadette
|
|
2006
|
1 |
1 |
|
artikel
|
| 37 |
Naxos disease: Cardiocutaneous syndrome due to cell adhesion defect
|
Protonotarios, Nikos
|
|
2006
|
1 |
1 |
|
artikel
|
| 38 |
Ollier disease
|
Silve, Caroline
|
|
2006
|
1 |
1 |
|
artikel
|
| 39 |
Orphanet Journal of Rare Diseases: Launch Editorial
|
Aymé, Ségolène
|
|
2006
|
1 |
1 |
|
artikel
|
| 40 |
Otodental syndrome
|
Bloch-Zupan, Agnès
|
|
2006
|
1 |
1 |
|
artikel
|
| 41 |
Pfeiffer syndrome
|
Vogels, Annick
|
|
2006
|
1 |
1 |
|
artikel
|
| 42 |
Pheochromocytomas and secreting paragangliomas
|
Plouin, Pierre-François
|
|
2006
|
1 |
1 |
|
artikel
|
| 43 |
Plummer-Vinson syndrome
|
Novacek, Gottfried
|
|
2006
|
1 |
1 |
|
artikel
|
| 44 |
Premature ovarian failure
|
Beck-Peccoz, Paolo
|
|
2006
|
1 |
1 |
|
artikel
|
| 45 |
Primary sclerosing cholangitis
|
Worthington, Joy
|
|
2006
|
1 |
1 |
|
artikel
|
| 46 |
Retinitis pigmentosa
|
Hamel, Christian
|
|
2006
|
1 |
1 |
|
artikel
|
| 47 |
Retinoblastoma
|
Aerts, Isabelle
|
|
2006
|
1 |
1 |
|
artikel
|
| 48 |
Solitary median maxillary central incisor (SMMCI) syndrome
|
Hall, Roger K
|
|
2006
|
1 |
1 |
|
artikel
|
| 49 |
Systemic lupus erythematosus
|
Manson, Jessica J
|
|
2006
|
1 |
1 |
|
artikel
|
| 50 |
Thromboangiitis obliterans (Buerger's disease)
|
Arkkila, Perttu ET
|
|
2006
|
1 |
1 |
|
artikel
|
| 51 |
Walker-Warburg syndrome
|
Vajsar, Jiri
|
|
2006
|
1 |
1 |
|
artikel
|
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