檢索結果 - Scheffer, H

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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Apparent SMA I unlinked to 5q. 由 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

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

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Assessment of Nutritional Status, Digestion and Absorption, and Quality of Life in Patients with Locally Advanced Pancreatic Cancer 由 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.

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Eight closely linked loci place the Wilson disease locus within 13q14-q21 由 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.

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