Resultats de la cerca - Scheffer, H

An anonymous single copy genomic clone at 13q12-13q13 identifies three RFLPs [HGM8 assignment no. D13S11]. per Scheffer, H, Penninga, D, Goor, N, Pearson, P L, Buys, C H

Obtenir text complet Obtenir text complet

A four-allele RFLP identified by an anonymous single copy genomic clone at 13q21-13qter [HGM8 assignment no. D13S12] per Scheffer, H, Penninga, D, Goor, N, Pearson, P L, Buys, C H

Obtenir text complet Obtenir text complet

Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype per Hordijk, R., Wierenga, H., Scheffer, H., Leegte, B., Hofstra, R., Stolte-Dijkstra, I.

Obtenir text complet Obtenir text complet

Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance per Courtens, W, Johansson, A, Dachy, B, Avni, F, Telerman-Toppet, N, Scheffer, H

Obtenir text complet Obtenir text complet Obtenir text complet

The single copy probe pG24E2.4 [D13S21] reveals a Bsp1286 RFLP at 13q14.1-q14.2. per Bowcock, A M, Hebert, J M, Scheffer, H, Penninga, D, Buys, C H

Obtenir text complet Obtenir text complet

The anonymous probe pG50 identifying the locus D13S24 detects a two allele RFLP with SspI. per Bowcock, A M, Hebert, J M, Scheffer, H, Penninga, D, Buys, C H

Obtenir text complet Obtenir text complet

Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense per SCHEFFER, H, VAN DER VLIES, P, BURTON, M, VERLIND, E, MOLL, A, IMHOF, S, BUYS, C

Obtenir text complet Obtenir text complet Obtenir text complet

A high frequency RFLP identified by an anonymous single copy genomic clone at 13q14.1-13q14.2 [HGM8 assignment no. D13S22]. per Bowcock, A M, Scheffer, H, Hebert, J M, van den Berg, J H, Buys, C H

Obtenir text complet Obtenir text complet

Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. per Cobben, J M, van der Steege, G, Grootscholten, P, de Visser, M, Scheffer, H, Buys, C H

Obtenir text complet Obtenir text complet

Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide. per Lubbers, W J, Brunt, E R, Scheffer, H, Litt, M, Stulp, R, Browne, D L, van Weerden, T W

Obtenir text complet Obtenir text complet

Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity per van der Sluijs, B M, ter Laak, H J, Scheffer, H, van der Maarel, S M, van Engelen, B G M

Obtenir text complet Obtenir text complet Obtenir text complet

Noonan Syndrome: Comparing Mutation-Positive with Mutation-Negative Dutch Patients per Croonen, E.A., Nillesen, W., Schrander, C., Jongmans, M., Scheffer, H., Noordam, C., Draaisma, J.M.T., van der Burgt, I., Yntema, H.G.

Obtenir text complet Obtenir text complet Obtenir text complet

Irreversible Electroporation to Treat Malignant Tumor Recurrences Within the Pelvic Cavity: A Case Series per Vroomen, L. G. P. H., Scheffer, H. J., Melenhorst, M. C. A. M., van Grieken, N., van den Tol, M. P., Meijerink, M. R.

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet

Apparent SMA I unlinked to 5q. per 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

Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet

Assessment of Nutritional Status, Digestion and Absorption, and Quality of Life in Patients with Locally Advanced Pancreatic Cancer per Witvliet-van Nierop, J. E., Lochtenberg-Potjes, C. M., Wierdsma, N. J., Scheffer, H. J., Kazemier, G., Ottens-Oussoren, K., Meijerink, M. R., de van der Schueren, M. A. E.

Obtenir text complet Obtenir text complet Obtenir text complet

Eight closely linked loci place the Wilson disease locus within 13q14-q21 per Bowcock, A. M., Farrer, L. A., Hebert, J. M., Agger, M., Sternlieb, I., Scheinberg, I. H., Buys, C. H. C. M., Scheffer, H., Frydman, M., Chajek-Saul, T., Bonne-Tamir, B., Cavalli-Sforza, L. L.

Obtenir text complet Obtenir text complet