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Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8. [electronic resource] by
- Schmidt, T
- Bierhals, T
- Kortüm, F
- Bartels, I
- Liehr, T
- Burfeind, P
- Shoukier, M
- Frank, V
- Bergmann, C
- Kutsche, K
Producer: 20140220
In:
Cytogenetic and genome research vol. 142
Availability: No items available.
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10.
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An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient. [electronic resource] by
- Auber, B
- Burfeind, P
- Thiels, C
- Alsat, E A
- Shoukier, M
- Liehr, T
- Nelle, H
- Bartels, I
- Salinas-Riester, G
- Laccone, F
Producer: 20101005
In:
Clinical genetics vol. 77
Availability: No items available.
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11.
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Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants? [electronic resource] by
- Shoukier, M
- Klein, N
- Auber, B
- Wickert, J
- Schröder, J
- Zoll, B
- Burfeind, P
- Bartels, I
- Alsat, E A
- Lingen, M
- Grzmil, P
- Schulze, S
- Keyser, J
- Weise, D
- Borchers, M
- Hobbiebrunken, E
- Röbl, M
- Gärtner, J
- Brockmann, K
- Zirn, B
Producer: 20130712
In:
Clinical genetics vol. 83
Availability: No items available.
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