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Inherited diseases (BASKET)
LE WE PMID CA
Inherited diseases (BASKET)990Hereditaere Erkrankungen (allg)

Fabry s disease

Gene reversion

Genetics (Mosaicism)

Inherited diseases (BASKET)

Lipids

MRS (Method)

MRT (Instrumentation)

Mucopolysaccharidosis

Pharmacology (BASKET)

2007  
1
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
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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