An anonymous single copy genomic clone at 13q12-13q13 identifies three RFLPs [HGM8 assignment no. D13S11].

door Scheffer, H, Penninga, D, Goor, N, Pearson, P L, Buys, C H
Gepubliceerd in 1986

A four-allele RFLP identified by an anonymous single copy genomic clone at 13q21-13qter [HGM8 assignment no. D13S12]

door Scheffer, H, Penninga, D, Goor, N, Pearson, P L, Buys, C H
Gepubliceerd in 1986

The single copy probe pG24E2.4 [D13S21] reveals a Bsp1286 RFLP at 13q14.1-q14.2.

door Bowcock, A M, Hebert, J M, Scheffer, H, Penninga, D, Buys, C H
Gepubliceerd in 1989

The anonymous probe pG50 identifying the locus D13S24 detects a two allele RFLP with SspI.

door Bowcock, A M, Hebert, J M, Scheffer, H, Penninga, D, Buys, C H
Gepubliceerd in 1989

Improved mutation detection in GC-rich DNA fragments by combined DGGE and CDGE.

door Wu, Y, Stulp, R P, Elfferich, P, Osinga, J, Buys, C H, Hofstra, R M
Gepubliceerd in 1999

A high frequency RFLP identified by an anonymous single copy genomic clone at 13q14.1-13q14.2 [HGM8 assignment no. D13S22].

door Bowcock, A M, Scheffer, H, Hebert, J M, van den Berg, J H, Buys, C H
Gepubliceerd in 1987

A gene in the chromosomal region 3p21 with greatly reduced expression in lung cancer is similar to the gene for ubiquitin-activating enzyme.

door Kok, K, Hofstra, R, Pilz, A, van den Berg, A, Terpstra, P, Buys, C H, Carritt, B
Gepubliceerd in 1993

Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.

door Cobben, J M, van der Steege, G, Grootscholten, P, de Visser, M, Scheffer, H, Buys, C H
Gepubliceerd in 1995

A new RFLP identified at the D3S48 locus

door Kok, K., Fan, M.-Z., Jonas, A., Van Den Berg, A, Carritt, B., Buys, C.H.C.M.
Gepubliceerd in 1991

Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electrophoresis.

door Wu, Y, Hayes, V M, Osinga, J, Mulder, I M, Looman, M W, Buys, C H, Hofstra, R M
Gepubliceerd in 1998

BclI RFLP for the human vimentin gene.

door Marcus, E M, Smith, B A, Telenius, H, Landsvater, R M, Buys, C H, Ferrari, S, Ponder, B A, Mathew, C G
Gepubliceerd in 1988

A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction.

door Hofstra, R M, Valdenaire, O, Arch, E, Osinga, J, Kroes, H, Löffler, B M, Hamosh, A, Meijers, C, Buys, C H
Gepubliceerd in 1999

Improvements in gel composition and electrophoretic conditions for broad-range mutation analysis by denaturing gradient gel electrophoresis.

door Hayes, V M, Wu, Y, Osinga, J, Mulder, I M, van der Vlies, P, Elfferich, P, Buys, C H, Hofstra, R M
Gepubliceerd in 1999

Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I.

door Cobben, J M, de Visser, M, Scheffer, H, Osinga, J, van der Steege, G, Buys, C H, van Ommen, G J, ten Kate, L P
Gepubliceerd in 1993

Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5.

door van der Steege, G., Grootscholten, P. M., Cobben, J. M., Zappata, S., Scheffer, H., den Dunnen, J. T., van Ommen, G. J., Brahe, C., Buys, C. H.
Gepubliceerd in 1996

Linkage analysis of families with hereditary retinoblastoma: nonpenetrance of mutation, revealed by combined use of markers within and flanking the RB1 gene.

door Scheffer, H, te Meerman, G J, Kruize, Y C, van den Berg, A H, Penninga, D P, Tan, K E, der Kinderen, D J, Buys, C H
Gepubliceerd in 1989

Apparent SMA I unlinked to 5q.

door Cobben, J M, Scheffer, H, de Visser, M, Begeer, J H, Molenaar, W M, van der Steege, G, Buys, C H, van Ommen, G J, Ten Kate, L P
Gepubliceerd in 1994

The clinical implications of a positive calcitonin test for C-cell hyperplasia in genetically unaffected members of an MEN2A kindred.

door Landsvater, R M, Rombouts, A G, te Meerman, G J, Schillhorn-van Veen, J M, Berends, M J, Geerdink, R A, Struyvenberg, A, Buys, C H, Lips, C J
Gepubliceerd in 1993

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

door van Essen, A J, Kneppers, A L, van der Hout, A H, Scheffer, H, Ginjaar, I B, ten Kate, L P, van Ommen, G J, Buys, C H, Bakker, E
Gepubliceerd in 1997

Demonstration of the genuine iso-12p character of the standard marker chromosome of testicular germ cell tumors and identification of further chromosome 12 aberrations by competiti...

door Suijkerbuijk, R F, van de Veen, A Y, van Echten, J, Buys, C H, de Jong, B, Oosterhuis, J W, Warburton, D A, Cassiman, J J, Schonk, D, Geurts van Kessel, A
Gepubliceerd in 1991