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A new strategy for the detection of subtelomeric rearrangements. [electronic resource] by
- Fauth, C
- Zhang, H
- Harabacz, S
- Brown, J
- Saracoglu, K
- Lederer, G
- Rittinger, O
- Rost, I
- Eils, R
- Kearney, L
- Speicher, M R
Producer: 20020215
In:
Human genetics vol. 109
Availability: No items available.
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24.
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First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome. [electronic resource] by
- Meins, M
- Böhm, D
- Großmann, A
- Herting, E
- Fleckenstein, B
- Fauth, C
- Speicher, M R
- Schindler, R
- Zoll, B
- Bartels, I
- Burfeind, Peter
Producer: 20041109
In:
American journal of medical genetics. Part A vol. 127A
Availability: No items available.
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25.
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Multiplex-FISH for pre- and postnatal diagnostic applications. [electronic resource] by
- Uhrig, S
- Schuffenhauer, S
- Fauth, C
- Wirtz, A
- Daumer-Haas, C
- Apacik, C
- Cohen, M
- Müller-Navia, J
- Cremer, T
- Murken, J
- Speicher, M R
Producer: 19990820
In:
American journal of human genetics vol. 65
Availability: No items available.
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26.
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Tetrasomy 21pter-->q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation. [electronic resource] by
- Rost, I
- Fiegler, H
- Fauth, C
- Carr, P
- Bettecken, T
- Kraus, J
- Meyer, C
- Enders, A
- Wirtz, A
- Meitinger, T
- Carter, N P
- Speicher, M R
Producer: 20040615
In:
Journal of medical genetics vol. 41
Availability: No items available.
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27.
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Parental origin of de novo cytogenetically balanced reciprocal non-Robertsonian translocations. [electronic resource] by
- Höckner, M
- Spreiz, A
- Frühmesser, A
- Tzschach, A
- Dufke, A
- Rittinger, O
- Kalscheuer, V
- Singer, S
- Erdel, M
- Fauth, C
- Grossmann, V
- Utermann, G
- Zschocke, J
- Kotzot, D
Producer: 20120814
In:
Cytogenetic and genome research vol. 136
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28.
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Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile. [electronic resource] by
- Antonell, A
- Del Campo, M
- Magano, L F
- Kaufmann, L
- de la Iglesia, J Martínez
- Gallastegui, F
- Flores, R
- Schweigmann, U
- Fauth, C
- Kotzot, D
- Pérez-Jurado, L A
Producer: 20100728
In:
Journal of medical genetics vol. 47
Availability: No items available.
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29.
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Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies. [electronic resource] by
- Spreiz, A
- Haberlandt, E
- Baumann, M
- Baumgartner Sigl, S
- Fauth, C
- Gautsch, K
- Karall, D
- Janetschek, C
- Rostasy, K
- Scholl-Bürgi, S
- Zotter, S
- Utermann, G
- Zschocke, J
- Kotzot, D
Producer: 20150525
In:
Clinical genetics vol. 86
Availability: No items available.
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30.
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Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis. [electronic resource] by
- Grossmann, V
- Höckner, M
- Karmous-Benailly, H
- Liang, D
- Puttinger, R
- Quadrelli, R
- Röthlisberger, B
- Huber, A
- Wu, L
- Spreiz, A
- Fauth, C
- Erdel, M
- Zschocke, J
- Utermann, G
- Kotzot, D
Producer: 20110222
In:
Clinical genetics vol. 78
Availability: No items available.
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