Journal Article (452)
Journal Article
51 (3), pp. 249 - 255 (2002)
Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy. Epilepsy Research
Journal Article
20 (3), pp. 197 - 208 (2002)
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. Human Mutation
Journal Article
20 (3), pp. 153 - 161 (2002)
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Human Mutation
Journal Article
8 (5), pp. 612 - 625 (2002)
Crosslinking of 4.5S RNA to the Escherichia coli ribosome in the presence or absence of the protein Ffh. RNA
Journal Article
245 (1), pp. 95 - 108 (2002)
Role of Runx Genes in Chondrocyte Differentiation. Developmental Biology
Journal Article
245 (1), pp. 95 - 108 (2002)
Role of Runx Genes in Chondrocyte Differentiation. Developmental Biology
Journal Article
245 (1), pp. 95 - 108 (2002)
Role of Runx Genes in Chondrocyte Differentiation. Developmental Biology
Journal Article
22 (5), pp. 404 - 407 (2002)
Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2. Prenatal Diagnosis
Journal Article
204 (4), pp. 296 - 297 (2002)
Segmental Neurofibromatosis. Dermatology
Journal Article
19 (3), pp. 209 - 216 (2002)
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Human Mutation
Journal Article
112 (1-2), pp. 53 - 67 (2002)
The synpolydactyly homolog (spdh) mutation in the mouse – a defect in patterning and growth of limb cartilage eleme. Mechanisms of Development
Journal Article
112 (1-2), pp. 53 - 67 (2002)
The synpolydactyly homolog (spdh) mutation in the mouse – a defect in patterning and growth of limb cartilage eleme. Mechanisms of Development Book (1)
Book
Limb Malformations – An Atlas of Genetic Disorders of Limb Development. Springer-Verlag, Berlin, Heidelberg (2014), 767 pp.
Book Chapter (1)
Book Chapter
Exact Score Distribution Computation for Similarity Searches in Ontologies. In: Algorithms in Bioinformatics, pp. 298 - 309 (Eds. Salzberg, S. L.; Warnow, T.). Springer, New York [et al] (2009)
Conference Paper (2)
Conference Paper
136, Article 28, (2020)
Integration of Hi-C and Nanopore Sequencing for Structural Variant Analysis in AML with a Complex Karyotype: (Chromothripsis)². 62nd Annual Meeting and Exposition of the American Society of Hematology (ASH) (Virtual meeting), December 05, 2020 - December 08, 2020. Blood
Conference Paper
Identification of potential regulatory elements in Capture-C interaction profiles. In: Genome Regulation in 3D. Genome Regulation in 3D, Rehovot, Israel, June 28, 2015 - June 30, 2015. Weizmann Institute, Rehovot, Israel (2015)
Talk (1)
Talk
LilBUBome - Why would you crowdfund a cute cat? Open Science Days 2016, Berlin (2016)
Thesis (2)
Thesis
Sequenzierung des LoxP flankierten Exon 6 des Gens Piga im Mausmodell. Humboldt Universität zu Berlin, (2015)
Thesis
Analyse von Mutationen monogener Erkrankungen bezüglich evolutionärer Konservierung und Transkriptionsfaktorbindungsstellen. Freie Universität Berlin (2015)
Thesis - PhD (14)
Thesis - PhD
Single cell sequencing as a phenotyping strategy to decipher the molecular mechanisms of developmental disorder. Dissertation (2023)