Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defectsHOL, F. A; VAN DER PUT, N. M. J; GEURDS, M. P. A et al.Clinical genetics. 1998, Vol 53, Num 2, pp 119-125, issn 0009-9163Article

Mitochondrial t^RNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosisLÖWIK, M. M; HOL, F. A; STEENBERGEN, E. J et al.Nephrology, dialysis, transplantation (Print). 2005, Vol 20, Num 2, pp 336-341, issn 0931-0509, 6 p.Article

Absence of linkage between familial neural tube defects and PAX3 geneCHATKUPT, S; HOL, F. A; SHUGART, Y. Y et al.Journal of medical genetics. 1995, Vol 32, Num 3, pp 200-204, issn 0022-2593Article

Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosisACKETT, B. C. H; FITZGERALD, D; WATSON, R. M et al.British journal of dermatology (1951). 2010, Vol 162, Num 2, pp 448-451, issn 0007-0963, 4 p.Article

A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndromeHOL, F. A; HAMEL, B. C. J; GEURDS, M. P. A et al.Journal of medical genetics. 1995, Vol 32, Num 1, pp 52-56, issn 0022-2593Article

Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic familyHOL, F. A; GEURDS, M. P. A; JENSSON, O et al.Human genetics. 1994, Vol 93, Num 4, pp 452-456, issn 0340-6717Article

Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3SOLOMON, N. M; ROSS, S. A; FORREST, S. M et al.Journal of medical genetics. 2004, Vol 41, Num 9, pp 669-678, issn 0022-2593, 10 p.Article

Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNA^Ser(UCN) geneGRAFAKOU, O; HOL, F. A; SCHWAB, K. Otfried et al.Journal of inherited metabolic disease. 2003, Vol 26, Num 6, pp 593-600, issn 0141-8955, 8 p.Article

A deletion encompassing Zic3 in Bent tail, a mouse model for X-linked neural tube defectsKLOOTWIJK, R; FRANKE, B; VAN DER ZEE, C. E. E. M et al.Human molecular genetics (Print). 2000, Vol 9, Num 11, pp 1615-1622, issn 0964-6906Article

Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation familyHOL, F. A; HAMEL, B. C. J; GEURDS, M. P. A et al.Human genetics. 1995, Vol 95, Num 6, pp 687-690, issn 0340-6717Article

Tall stature and progressive overweight in mitochondrial encephalopathyMORAVA, E; HOL, . F. A; JANSSEN, A et al.Journal of inherited metabolic disease. 2003, Vol 26, Num 7, pp 720-722, issn 0141-8955, 3 p.Article