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Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation. [electronic resource] by
- Auber, Bernd
- Bruemmer, Verena
- Zoll, Barbara
- Burfeind, Peter
- Boehm, Detlef
- Liehr, Thomas
- Brockmann, Knut
- Wilichowski, Ekkehard
- Argyriou, Loukas
- Bartels, Iris
Producer: 20110714
In:
Molecular cytogenetics vol. 2
Availability: No items available.
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Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. [electronic resource] by
- Haack, Tobias B
- Danhauser, Katharina
- Haberberger, Birgit
- Hoser, Jonathan
- Strecker, Valentina
- Boehm, Detlef
- Uziel, Graziella
- Lamantea, Eleonora
- Invernizzi, Federica
- Poulton, Joanna
- Rolinski, Boris
- Iuso, Arcangela
- Biskup, Saskia
- Schmidt, Thorsten
- Mewes, Hans-Werner
- Wittig, Ilka
- Meitinger, Thomas
- Zeviani, Massimo
- Prokisch, Holger
Producer: 20101230
In:
Nature genetics vol. 42
Availability: No items available.
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Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. [electronic resource] by
- Bausch, Birke
- Borozdin, Wiktor
- Mautner, Victor F
- Hoffmann, Michael M
- Boehm, Detlef
- Robledo, Mercedes
- Cascon, Alberto
- Harenberg, Tomas
- Schiavi, Francesca
- Pawlu, Christian
- Peczkowska, Mariola
- Letizia, Claudio
- Calvieri, Stefano
- Arnaldi, Giorgio
- Klingenberg-Noftz, Rolf D
- Reisch, Nicole
- Fassina, Ambrogio
- Brunaud, Laurent
- Walter, Martin A
- Mannelli, Massimo
- MacGregor, Graham
- Palazzo, F Fausto
- Barontini, Marta
- Walz, Martin K
- Kremens, Bernhard
- Brabant, Georg
- Pfäffle, Roland
- Koschker, Ann-Cathrin
- Lohoefner, Felix
- Mohaupt, Markus
- Gimm, Oliver
- Jarzab, Barbara
- McWhinney, Sarah R
- Opocher, Giuseppe
- Januszewicz, Andrzej
- Kohlhase, Jürgen
- Eng, Charis
- Neumann, Hartmut P H
Producer: 20070828
In:
The Journal of clinical endocrinology and metabolism vol. 92
Availability: No items available.
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