Congenital contractural arachnodactyly (Beals syndrome)
2006; 1: 20
Lowe syndrome
2006; 1: 16
Hypersensitivity pneumonitis
2006; 1: 25
Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia
2006; 1: 24
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)
2006; 1: 26
Walker-Warburg syndrome
2006; 1: 29
Nasopharyngeal carcinoma
2006; 1: 23
Cardiomyopathy, familial dilated
2006; 1: 27
Biliary atresia
2006; 1: 28
Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
2006; 1: 30
Congenital Cataracts – Facial Dysmorphism – Neuropathy
2006; 1: 32
Cri du Chat syndrome
2006; 1: 33
Plummer-Vinson syndrome
2006; 1: 36
Retinoblastoma
2006; 1: 31
CHARGE syndrome
2006; 1: 34
Brugada syndrome
2006; 1: 35
Ollier disease
2006; 1: 37
Multiple endocrine neoplasia type 1
2006; 1: 38
Retinitis pigmentosa
2006; 1: 40
Foetal and neonatal alloimmune thrombocytopaenia
2006; 1: 39
Klinefelter syndrome and other sex chromosomal aneuploidies
2006; 1: 42
Primary sclerosing cholangitis
2006; 1: 41
Congenital pulmonary lymphangiectasia
2006; 1: 43
Multiple endocrine neoplasia type 2
2006; 1: 45
Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy)
2006; 1: 46
Mesothelioma mortality in Europe: impact of asbestos consumption and simian virus 40
2006; 1: 44
Autosomal recessive cerebellar ataxias
2006; 1: 47
Early onset torsion dystonia (Oppenheim's dystonia)
2006; 1: 48
Pheochromocytomas and secreting paragangliomas
2006; 1: 49
KBG syndrome
2006; 1: 50
Coronary arterial fistulas
2006; 1: 51
Hereditary chronic pancreatitis
2007; 2: 1
Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome
2007; 2: 2
Essential thrombocythemia
2007; 2: 3
Noonan syndrome
2007; 2: 4
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure
2007; 2: 5
Osteosarcoma (Osteogenic sarcoma)
2007; 2: 6
Holoprosencephaly
2007; 2: 8
Further phenotypic delineation of subtelomeric (terminal) 4q deletion with emphasis on intracranial and reproductive anatomy
2007; 2: 9
Cone rod dystrophies
2007; 2: 7