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J-P Fryns Selected Research

Intellectual Disability (Idiocy)

1/2016X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
1/2003A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients.

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J-P Fryns Research Topics

Disease

2Intellectual Disability (Idiocy)
01/2016 - 01/2003
2X-Linked Mental Retardation (Mental Retardation, X Linked)
10/2005 - 01/2003
1Schizencephaly
03/2007
1Juvenile gout
09/2006
1Cysts
09/2006
1Hyperuricemia
09/2006
1Cystic Kidney Diseases (Cystic Kidney Disease)
09/2006
1Gout
09/2006
1Kidney Diseases (Kidney Disease)
09/2006
1Renal Insufficiency (Renal Failure)
09/2006
1monosomy Chromosome 7
08/2006
1Oculodentodigital Dysplasia
10/2005
1Syndactyly (Polysyndactyly)
10/2005
1Cleft Lip (Harelip)
10/2005
1Cognitive Dysfunction
01/2003
1Hereditary Nephritis (Alport Syndrome)
01/2003

Drug/Important Bio-Agent (IBA)

2Proteins (Proteins, Gene)FDA Link
01/2016 - 10/2005
1SolventsIBA
03/2007
1UromodulinIBA
09/2006
1AS 8IBA
08/2006
1disodium salt olean-11,13(18)-diene-3,30-diol dihemiphthalateIBA
10/2005
1Ligases (Synthetase)IBA
01/2003
1Fatty Acids (Saturated Fatty Acids)IBA
01/2003
1Coenzyme A (CoA)IBA
01/2003