Iskani rezultati za avtorja

1

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

Izdano 1986

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2

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

Izdano 1986

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3

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

Izdano 1999

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4

$Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance$

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

Izdano 2002

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5

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

Izdano 1989

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6

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

Izdano 1989

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7

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

Izdano 2000

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8

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

Izdano 1987

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9

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

Izdano 1995

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10

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

Izdano 1995

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11

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

Izdano 2004

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12

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

Izdano 2013

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13

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

Izdano 2017

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14

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

Izdano 1993

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15

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

Izdano 1996

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16

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

Izdano 1989

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17

Apparent SMA I unlinked to 5q. od 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

Izdano 1994

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18

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

Izdano 1997

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19

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

Izdano 2017

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20

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

Izdano 1988

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Rezultati - Scheffer, H

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Apparent SMA I unlinked to 5q. od 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

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

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