| Nr. | Year OPEN | Title | users say | rate good | rate bad | no link | Citation |
|---|
Inherited diseases (BASKET)LipidsPharmacology (BASKET)Fabry s diseaseMucopolysaccharidosis| 1 | 2007 | Genetic diseases of junctions. | 
| + | - | nl | J Invest Dermatol 127(12):2713-25 (2007) |
| 2 | 1984 | Malformation syndromes--a diagnostic approach. |
| + | - | nl | Arch Dis Child 59(4):294-5 (1984) |
| 3 | 1970 | Progress in birth defects research. |
| + | - | nl | Calif Med 112(2):26-42 (1970) |
| 4 | 1965 | Congenital chromosomal syndromes. A model for pathogenesis. |
| + | - | nl | Calif Med 103(4):249-53 (1965) |
| 5 | 1993 | Single gene disorders affecting the gastrointestinal tract. |
| + | - | nl | Gut 34(4):433-6 (1993) |
| 6 | 1960 | Heredity in Gastroenterology: A Review. |
| + | - | nl | Gut 1(4):273-84 (1960) |
| 7 | 1963 | INHERITED ENZYME DEFECTS: A REVIEW. |
| + | - | nl | J Clin Pathol 16(-):293-318 (1963) |
| 8 | 1999 | Monogenic disorders of obesity and body fat distribution. |
| + | - | nl | J Lipid Res 40(10):1735-46 (1999) |
| 9 | 1994 | A gene map of congenital malformations. |
| + | - | nl | J Med Genet 31(7):507-17 (1994) |
| 10 | 1994 | The morbid anatomy of the human genome: chromosomal location of mutations causing disease (update 1 December 1993). |
| + | - | nl | J Med Genet 31(4):265-79 (1994) |
| 11 | 1994 | Mouse homologues of human hereditary disease. |
| + | - | nl | J Med Genet 31(1):1-19 (1994) |
| 12 | 1993 | Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders. |
| + | - | nl | J Med Genet 30(9):713-27 (1993) |
| 13 | 1993 | Molecular diagnosis of some common genetic diseases in Russia and the former USSR: present and future. |
| + | - | nl | J Med Genet 30(2):141-6 (1993) |
| 14 | 1993 | The morbid anatomy of the human genome: chromosomal location of mutations causing disease. |
| + | - | nl | J Med Genet 30(1):1-26 (1993) |
| 15 | 1990 | Medical genetics in South Africa. |
| + | - | nl | J Med Genet 27(12):760-79 (1990) |
| 16 | 1988 | Malformation syndromes: a review of mouse/human homology. |
| + | - | nl | J Med Genet 25(7):480-7 (1988) |
| 17 | 1988 | Dysmorphic syndromes with demonstrable biochemical abnormalities. |
| + | - | nl | J Med Genet 25(7):463-72 (1988) |
| 18 | 1988 | Medical genetics in Hungary. |
| + | - | nl | J Med Genet 25(1):2-8 (1988) |
| 19 | 1973 | The skin in genetically-controlled metabolic disorders. |
| + | - | nl | J Med Genet 10(2):101-11 (1973) |
| 20 | 2005 | Neurogenetics II: complex disorders. |
| + | - | nl | J Neurol Neurosurg Psychiatry 76(5):623-31 (2005) |
| 21 | 2000 | Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation. |
| + | - | nl | J Neurol Neurosurg Psychiatry 69(1):5-12 (2000) |
| 22 | 1994 | Clinical genetics in neurological disease. |
| + | - | nl | J Neurol Neurosurg Psychiatry 57(1):7-15 (1994) |
| 23 | 2007 | Loss-of-function genetic diseases and the concept of pharmaceutical targets. |
| + | - | nl | Orphanet J Rare Dis 2(-):30 (2007) |
| 24 | 1986 | Recently recognized chromosomal defects of clinical importance. |
| + | - | nl | Postgrad Med J 62(724):131-42 (1986) |
| 25 | 1986 | Teratogenic inborn errors of metabolism. |
| + | - | nl | Postgrad Med J 62(724):125-9 (1986) |
| 26 | 2003 | Genetic disorders of the skeleton: a developmental approach. |
| + | - | nl | Am J Hum Genet 73(3):447-74 (2003) |
| 27 | 2009 | Regenerative pharmacology in the treatment of genetic diseases: the paradigm of muscular dystrophy. |
| + | - | nl | Int J Biochem Cell Biol 41(4):701-10 (2009) |
| 28 | 2010 | New therapeutic approaches to mendelian disorders. |
| + | - | nl | N Engl J Med 363(9):852-63 (2010) |
| 29 | 2010 | Genomic medicine--an updated primer. |
| + | - | nl | N Engl J Med 362(21):2001-11 (2010) |
| 30 | 2011 | Awakening Australia to Rare Diseases: symposium report and preliminary outcomes. | 
| + | - | nl | Orphanet J Rare Dis 6(-):57 (2011) |
| 31 | 2010 | Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review. |
| + | - | nl | Orphanet J Rare Dis 5(-):14 (2010) |
