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Author/Creator Fryns, J-P

2. A 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. Issue 1 (1st January 2003)

Authors:
Longo, I; Frints, S G M; Fryns, J-P; Meloni, I; Pescucci, C; Ariani, F; Borghgraef, M; Raynaud, M; Marynen, P; Schwartz, C; Renieri, A; Froyen, G
Journal:
Journal of medical genetics
Issue:
Volume 40:Issue 1(2003)
Page Start:
11
Record Type:
Journal Article
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4. Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. Issue 4 (1st April 2005)

Authors:
Kleefstra, T; Smidt, M; Banning, M J G; Oudakker, A R; Van Esch, H; de Brouwer, A P M; Nillesen, W; Sistermans, E A; Hamel, B C J; de Bruijn, D; Fryns, J-P; Yntema, H G; Brunner, H G; de Vries, B B A; van Bokhoven, H
Journal:
Journal of medical genetics
Issue:
Volume 42:Issue 4(2005)
Page Start:
299
Record Type:
Journal Article
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6. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. Issue 8 (20th February 2006)

Authors:
Menten, B; Maas, N; Thienpont, B; Buysse, K; Vandesompele, J; Melotte, C; de Ravel, T; Van Vooren, S; Balikova, I; Backx, L; Janssens, S; De Paepe, A; De Moor, B; Moreau, Y; Marynen, P; Fryns, J-P; Mortier, G; Devriendt, K; Speleman, F; Vermeesch, J R
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 8(2006)
Page Start:
625
Record Type:
Journal Article
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7. Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). Issue 2 (14th September 2007)

Authors:
Maas, N M C; Van Buggenhout, G; Hannes, F; Thienpont, B; Sanlaville, D; Kok, K; Midro, A; Andrieux, J; Anderlid, B-M; Schoumans, J; Hordijk, R; Devriendt, K; Fryns, J-P; Vermeesch, J R
Journal:
Journal of medical genetics
Issue:
Volume 45:Issue 2(2008)
Page Start:
71
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗