Resultados de procura - Scheffer, H

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