Dagmar Wieczorek
- The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
2011/03/25 by Fanny Kortüm, Soma Das, M. Flindt +22 · 28 citations
Biochemistry, Genetics and Molecular Biology · #Genetics and Neurodevelopmental Disorders #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases
- Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications
2021/08/25 by Katrine M. Johannesen, Katrine M Johannesen, Yuanyuan Liu +164 · 30 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Genomics and Rare Diseases #Neurological disorders and treatments #Genetics and Neurodevelopmental Disorders
- A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
2013/08/01 by Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia +68 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Cancer Mechanisms and Therapy #Chromatin Remodeling and Cancer #Protein Degradation and Inhibitors
- Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
2013/10/12 by Jennie Murray, Jennie E. Murray, Louise S. Bicknell +30 · 1 citation
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · Medicine · #Acute Myeloid Leukemia Research #Chromosomal and Genetic Variations #DNA Repair Mechanisms
- Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene
2011/08/04 by Rebecca Nagy, R Nagy, H Wang +14 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Connective tissue disorders research #Moyamoya disease diagnosis and treatment #RNA modifications and cancer
- ANKRD11 variants: KBG syndrome and beyond
2021/05/06 by Ilaria Parenti, Mark B. Mallozzi, Mark Mallozzi +41 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Genomic variations and chromosomal abnormalities #Genomics and Chromatin Dynamics #Hedgehog Signaling Pathway Studies