Publications of Reinhard Ullmann
All genres
Journal Article (119)
61.
Journal Article
30 (1), pp. 61 - 68 (2009)
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. Human Mutation 62.
Journal Article
20 (4), pp. 401 - 405 (2008)
Strukturelle Genomvarianten – Ausmaß, Entstehung und phänotypische Konsequenzen. Medizinische Genetik 63.
Journal Article
132 (10), pp. 1557 - 1561 (2008)
An integrative approach for analyzing the interplay of genetic and epigenetic changes in tumors. Archives of Pathology and Laboratory Medicine 64.
Journal Article
132 (10), pp. 1557 - 1561 (2008)
An integrative approach for analyzing the interplay of genetic and epigenetic changes in tumors. Archives of Pathology and Laboratory Medicine 65.
Journal Article
146A (19), pp. 2570 - 2573 (2008)
A cryptic unbalanced translocation resulting in del 13q and dup 15q. American Journal of Medical Genetics Part A 66.
Journal Article
11, pp. 705 - 709 (2008)
High frequency of submicroscopic genomic aberrations detected by tiling path array CGH in patients with isolated congenital heart disease. Journal of Medical Genetics 67.
Journal Article
167 (8), pp. 903 - 908 (2008)
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. European Journal of Pediatrics 68.
Journal Article
146 A (16), pp. 2053 - 2059 (2008)
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. American Journal of Medical: Genetics Part A 69.
Journal Article
51 (6), pp. 615 - 621 (2008)
A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures. European Journal of Medical Genetics 70.
Journal Article
74 (6), pp. 560 - 565 (2008)
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. Clinical Genetics 71.
Journal Article
74 (6), pp. 560 - 565 (2008)
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. Clinical Genetics 72.
Journal Article
146 A (18), pp. 2431 - 2434 (2008)
Investigation of 4q-deletion in two unrelated patients using array CGH. American Journal of Medical Genetics: Part A 73.
Journal Article
82 (5), pp. 1165 - 1170 (2008)
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. The American Journal of Human Genetics 74.
Journal Article
18 (7), pp. 1143 - 1149 (2008)
Mapping translocation breakpoints by next-generation sequencing. Genome Research 75.
Journal Article
17 (3), pp. 458 - 465 (2008)
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Human Molecular Genetics 76.
Journal Article
29 (1), pp. 37 - 40 (2008)
Blepharophimosis-ptosis, epicanthus inversus syndrome in a girl with chromosome translocation t(2;3) (q33;q23). Ophthalmic Genetics 77.
Journal Article
73 (6), pp. 579 - 584 (2008)
Mowat-Wilson syndrome: an underdiagnosed syndrome? Clinical Genetics: an International Journal of Genetics and Molecular Medicine 78.
Journal Article
49 (6), pp. 1091 - 1094 (2008)
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A. Epilepsia 79.
Journal Article
131 (4), pp. 918 - 927 (2008)
Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain 80.
Journal Article
146 (3), pp. 337 - 342 (2008)
Chromosome deletions in 13q33-34: Report of four patients and review of the literature. American Journal of Medical Genetics Part A