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Entries: 1-10  
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Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.
Authors: Bartsch, Oliver; Gebauer, Konstanze; Lechno, Stanislav; van Esch, Hilde; Froyen, Guy; Bonin, Michael; Jörg Seidel, Jörg Seidel; Thamm-Mücke, Barbara; Horn, Denise; Klopock, Eva; Hertzberg, Christoph; Zechner, Ulrich; Haaf, Thomas
Date of Publication (YYYY-MM-DD): 2010-01-15
Title of Journal: American Journal of Medical Genetics Part A
Volume: 152A
Issue / Number: 2
Start Page: 305
End Page: 312,
Document Type: Article
ID: 536214.0
 
Full text / Content available
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder
Authors: Haensel, Jennifer; Kohlschmidt, Nicolai; Pitz, Susanne; Keilmann, Annerose; Zenker, Martin; Ullmann, Reinhard; Haaf, Thomas; Bartsch, Oliver
Date of Publication (YYYY-MM-DD): 2009-10
Title of Journal: American Journal of Medical Genetics Part A
Volume: 149
Issue / Number: 10
Start Page: 2236
End Page: 2240
Document Type: Article
ID: 472539.0
Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis
Authors: Bartsch, O.; Vlccaronková, Z.; Erdogan, Fikret; Ullmann, Reinhard; Novotná, D.; Spiegel, M.; Beyer, V.; Haaf, Thomas; Zechner, U.; Seemanová, E.
Date of Publication (YYYY-MM-DD): 2007-12-14
Title of Journal: Cytogenetic and Genome Research
Volume: 119
Issue / Number: 1 - 2
Start Page: 158
End Page: 64
Document Type: Article
ID: 333743.0
 
Full text / Content available
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome
Authors: Bartsch, Oliver; Rasi, Sasan; Delicado, Alicia; Dyack, Sarah; Neumann, Luitgard M.; Seemanová, Eva; Volleth, Marianne; Haaf, Thomas; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2006-06-17
Title of Journal: Human Genetics
Volume: 120
Issue / Number: 3
Start Page: 179
End Page: 186
Document Type: Article
ID: 307322.0
 
Full text / Content available
Plasticity of human chromosome 3 during primate evolution
Authors: Tsend-Ayush, Enkhjargal; Grützner, Frank; Yue, Ying; Grossmann, Bärbel; Hänsel, Ulrike; Sudbrak, Ralf; Haaf, Thomas
Date of Publication (YYYY-MM-DD): 2004-02
Title of Journal: Genomics
Volume: 83
Issue / Number: 2
Start Page: 193
End Page: 202
Document Type: Article
ID: 230839.0
D4F104S1 deletion in facioscapulohumeral muscular dystrophy - Phenotype, size, and detection
Authors: Lemmers, R. J. L. F.; Osborn, M.; Haaf, Thomas; Rogers, M.; Frants, R. R.; Padberg, G. W.; Cooper, D. N.; van der Maarel, S. M.; Upadhyaya, M.
Date of Publication (YYYY-MM-DD): 2003-07-22
Title of Journal: Neurology
Volume: 61
Issue / Number: 2
Start Page: 178
End Page: 183
Document Type: Article
ID: 194741.0
Four-Hundred Million Years of Conserved Synteny of Human Xp and Xq Genes on Three Tetraodon Chromosomes
Authors: Grützner, Frank; Roest Crollius, Hugues; Lütjens, Götz; Jaillon, Olivier; Weissenbach, Jean; Ropers, Hans Hilger; Haaf, Thomas
Date of Publication (YYYY-MM-DD): 2002-08-21
Title of Journal: Genome Research
Volume: 12
Issue / Number: 9
Start Page: 1316
End Page: 1322
Document Type: Article
ID: 24159.0
Formation of higher-order nuclear Rad51 structures is functionally linked to p21 expression and protection from DNA damage-induced apoptosis
Authors: Raderschall, Elke; Bazarov, Alex; Cao, Jiangping; Lurz, Rudi; Smith, Avril; Mann, Wolfgang; Ropers, Hans Hilger; Sedivy, John M.; Golub, Efim I.; Fritz, Eberhard; Haaf, Thomas
Date of Publication (YYYY-MM-DD): 2002-01
Title of Journal: Journal of Cell Science
Volume: 115
Issue / Number: 1
Start Page: 153
End Page: 164
Document Type: Article
ID: 24240.0
Elevated Levels of Rad51 Recombination Protein in Tumor Cells
Authors: Raderschall, Elke; Stout, Karen; Freier, Susanne; Suckow, Vanessa; Schweiger, Susann; Haaf, Thomas
Date of Publication (YYYY-MM-DD): 2002-01
Title of Journal: Cancer Research
Volume: 62
Issue / Number: 1
Start Page: 219
End Page: 225
Document Type: Article
ID: 24247.0
Formation of higher-order nuclear Rad51 structures is functionally linked to p21 expression and protection from DNA damage-induced apoptosis
Authors: Raderschall, Elke; Bazarov, Alex; Cao, Jiangping; Lurz, Rudi; Smith, Avril; Mann, Wolfgang; Ropers, Hans Hilger; Sedivy, John M.; Golub, Efim I.; Fritz, Eberhard; Haaf, Thomas
Date of Publication (YYYY-MM-DD): 2002-01
Title of Journal: Journal of Cell Science
Volume: 115
Issue / Number: 1
Start Page: 153
End Page: 164
Document Type: Article
ID: 24248.0
Entries: 1-10  
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