Ngā hua rapu kaituhi

1

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

I whakaputaina 1986

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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2

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

I whakaputaina 1986

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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3

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

I whakaputaina 1999

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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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 mā Courtens, W, Johansson, A, Dachy, B, Avni, F, Telerman-Toppet, N, Scheffer, H

I whakaputaina 2002

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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5

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

I whakaputaina 1989

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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6

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

I whakaputaina 1989

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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7

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

I whakaputaina 2000

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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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]. mā Bowcock, A M, Scheffer, H, Hebert, J M, van den Berg, J H, Buys, C H

I whakaputaina 1987

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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9

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

I whakaputaina 1995

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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10

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

I whakaputaina 1995

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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11

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

I whakaputaina 2004

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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12

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

I whakaputaina 2013

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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13

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

I whakaputaina 2017

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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14

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

I whakaputaina 1993

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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15

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

I whakaputaina 1996

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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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. mā 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

I whakaputaina 1989

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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17

Apparent SMA I unlinked to 5q. mā 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

I whakaputaina 1994

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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18

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

I whakaputaina 1997

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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19

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

I whakaputaina 2017

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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20

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

I whakaputaina 1988

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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Ngā hua rapu - Scheffer, H

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