Publications of Reinhard Ullmann
All genres
Journal Article (119)
81.
Journal Article
16 (3), pp. 312 - 319 (2008)
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia. European Journal of Human Genetics 82.
Journal Article
45 (6), pp. 370 - 375 (2008)
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Gentics 83.
Journal Article
45 (6), pp. 370 - 375 (2008)
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Gentics 84.
Journal Article
45 (6), pp. 370 - 375 (2008)
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Gentics 85.
Journal Article
51 (1), pp. 81 - 86 (2008)
Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly. European Journal of Medical Genetics 86.
Journal Article
31, p. e83 - e83 (2008)
HNF1B Abnormality (Mature-Onset Diabetes of the Young 5) in Children and Adolescents: High prevalence in autoantibody-negative type 1 diabetes with kidney defects. Diabetes Care 87.
Journal Article
146A (1), pp. 103 - 109 (2008)
Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome. American Journal of Medical Genetics Part A 88.
Journal Article
146A (2), pp. 197 - 203 (2008)
Characterization of Interstitial Xp duplications in two families by tiling path array CGH. American Journal of Medical Genetics. American Journal of Medical Genetics Part A 89.
Journal Article
119 (1 - 2), pp. 158 - 64 (2007)
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. Cytogenetic and Genome Research 90.
Journal Article
72 (6), pp. 593 - 598 (2007)
Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe. Clinical Genetics 91.
Journal Article
81 (5), pp. 1057 - 1069 (2007)
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes and epilepsy. American Journal of Human Genetics: AJHG 92.
Journal Article
81 (4), pp. 792 - 798 (2007)
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. The American Journal of Human Genetics: AJHG 93.
Journal Article
44 (6), pp. 381 - 386 (2007)
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. Druckausga 94.
Journal Article
143 (22), pp. 2716 - 2721 (2007)
Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family. American Journal of Medical Genetics Part A 95.
Journal Article
28 (7), pp. 674 - 682 (2007)
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Human Mutation: Variation, Databases, and Disease 96.
Journal Article
28 (7) (2007)
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Human Mutation: Variation, Databases, and Disease 97.
Journal Article
50 (4), pp. 243 - 255 (2007)
Transmitted cytogenetic abnormalities in patients with mental retardation: Pathogenic or normal variants? European Journal of Medical Genetics 98.
Journal Article
46 (4), pp. 359 - 372 (2007)
Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption. Genes, Chromosomes and Cancer 99.
Journal Article
143 (2), pp. 172 - 178 (2007)
Characterization of a 5.3 Mb deletion in 15q14 by Comparative Genomic Hybridization using a whole genome ”tiling path” BAC array in a girl with heart defect, cleft palate and developmental delay. American Journal of Medical Genetics Part A 100.
Journal Article
143 (2), pp. 172 - 178 (2007)
Characterization of a 5.3 Mb deletion in 15q14 by Comparative Genomic Hybridization using a whole genome ”tiling path” BAC array in a girl with heart defect, cleft palate and developmental delay. American Journal of Medical Genetics Part A