Inherited diseases (BASKET)

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Inherited diseases (BASKET)

LE WE PMID CA

Inherited diseases (BASKET)

990

Hereditaere Erkrankungen (allg)

Fabry s disease

Gene reversion

Genetics (Mosaicism)

Inherited diseases (BASKET)

Lipids

MRS (Method)

MRT (Instrumentation)

Mucopolysaccharidosis

Pharmacology (BASKET)

2007 1	Genetic diseases of junctions. [18007692] J Invest Dermatol 127(12): 2713-25 (2007)
1984 2	Malformation syndromes--a diagnostic approach. [6721552] Arch Dis Child 59(4): 294-5 (1984)
1970 3	Progress in birth defects research. [4919026] Calif Med 112(2): 26-42 (1970)
1965 4	Congenital chromosomal syndromes. A model for pathogenesis. [5318572] Calif Med 103(4): 249-53 (1965)
1993 5	Single gene disorders affecting the gastrointestinal tract. [8491385] Gut 34(4): 433-6 (1993)
1960 6	Heredity in Gastroenterology: A Review. [18668734] Gut 1(4): 273-84 (1960)
1963 7	INHERITED ENZYME DEFECTS: A REVIEW. [14044031] J Clin Pathol 16(-): 293-318 (1963)
1999 8	Monogenic disorders of obesity and body fat distribution. [10508193] J Lipid Res 40(10): 1735-46 (1999)
1994 9	A gene map of congenital malformations. [7966186] J Med Genet 31(7): 507-17 (1994)
1994 10	The morbid anatomy of the human genome: chromosomal location of mutations causing disease (update 1 December 1993). [8071951] J Med Genet 31(4): 265-79 (1994)
1994 11	Mouse homologues of human hereditary disease. [8151633] J Med Genet 31(1): 1-19 (1994)
1993 12	Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders. [8411066] J Med Genet 30(9): 713-27 (1993)
1993 13	Molecular diagnosis of some common genetic diseases in Russia and the former USSR: present and future. [8445619] J Med Genet 30(2): 141-6 (1993)
1993 14	The morbid anatomy of the human genome: chromosomal location of mutations causing disease. [8423603] J Med Genet 30(1): 1-26 (1993)
1990 15	Medical genetics in South Africa. [2074562] J Med Genet 27(12): 760-79 (1990)
1988 16	Malformation syndromes: a review of mouse/human homology. [3050095] J Med Genet 25(7): 480-7 (1988)
1988 17	Dysmorphic syndromes with demonstrable biochemical abnormalities. [3050094] J Med Genet 25(7): 463-72 (1988)
1988 18	Medical genetics in Hungary. [3280801] J Med Genet 25(1): 2-8 (1988)
1973 19	The skin in genetically-controlled metabolic disorders. [4126147] J Med Genet 10(2): 101-11 (1973)
2005 20	Neurogenetics II: complex disorders. [15834017] J Neurol Neurosurg Psychiatry 76(5): 623-31 (2005)
2000 21	Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation. [10864596] J Neurol Neurosurg Psychiatry 69(1): 5-12 (2000)
1994 22	Clinical genetics in neurological disease. [8301308] J Neurol Neurosurg Psychiatry 57(1): 7-15 (1994)
2007 23	Loss-of-function genetic diseases and the concept of pharmaceutical targets. [17674486] Orphanet J Rare Dis 2(-): 30 (2007)
1986 24	Recently recognized chromosomal defects of clinical importance. [3540928] Postgrad Med J 62(724): 131-42 (1986)
1986 25	Teratogenic inborn errors of metabolism. [3540927] Postgrad Med J 62(724): 125-9 (1986)
2003 26	Genetic disorders of the skeleton: a developmental approach. [12900795] Am J Hum Genet 73(3): 447-74 (2003)
2009 27	Regenerative pharmacology in the treatment of genetic diseases: the paradigm of muscular dystrophy. [18804548] Int J Biochem Cell Biol 41(4): 701-10 (2009)
2010 28	New therapeutic approaches to mendelian disorders. [20818846] N Engl J Med 363(9): 852-63 (2010)
2010 29	Genomic medicine--an updated primer. [20505179] N Engl J Med 362(21): 2001-11 (2010)
2011 30	Awakening Australia to Rare Diseases: symposium report and preliminary outcomes. [21849083] Orphanet J Rare Dis 6(-): 57 (2011)
2010 31	Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review. [20509947] Orphanet J Rare Dis 5(-): 14 (2010)
2006 32	A magnetic resonance approach to metabolic disorders in childhood. [17061196] Rev Neurol 43 Suppl 1(-): S5-16 (2006)
2007 33	An approach to MRI of metabolic disorders in children. [17459477] J Neuroradiol 34(2): 75-88 (2007)
2003 34	In vivo reversion to normal of inherited mutations in humans. [14569115] J Med Genet 40(10): 721-8 (2003)

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