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4q35 deletion and 10p15 duplication associated with immunodeficiency. [electronic resource] by
- Cingoz, S
- Bisgaard, A M
- Bache, I
- Bryndorf, T
- Kirchoff, M
- Petersen, W
- Ropers, H-H
- Maas, N
- Van Buggenhout, G
- Tommerup, N
- Tümer, Z
Producer: 20061213
In:
American journal of medical genetics. Part A vol. 140
Availability: No items available.
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Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature. [electronic resource] by
- Schönewolf-Greulich, B
- Bisgaard, A-M
- Møller, R S
- Dunø, M
- Brøndum-Nielsen, K
- Kaur, S
- Van Bergen, N J
- Lunke, S
- Eggers, S
- Jespersgaard, C
- Christodoulou, J
- Tümer, Z
Producer: 20200330
In:
Clinical genetics vol. 95
Availability: No items available.
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7.
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The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. [electronic resource] by
- Schönewolf-Greulich, B
- Tejada, M-I
- Stephens, K
- Hadzsiev, K
- Gauthier, J
- Brøndum-Nielsen, K
- Pfundt, R
- Ravn, K
- Maortua, H
- Gener, B
- Martínez-Bouzas, C
- Piton, A
- Rouleau, G
- Clayton-Smith, J
- Kleefstra, T
- Bisgaard, A-M
- Tümer, Z
Producer: 20170503
In:
Clinical genetics vol. 89
Availability: No items available.
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