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1. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Issue 11 (8th September 2018)

2. Diagnostic value of exome and whole genome sequencing in craniosynostosis. Issue 4 (24th November 2016)

3. Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study. (September 2022)

4. Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome. Issue 6 (3rd April 2019)

6. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Issue 11 (8th September 2018)

7. In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism. Issue 3 (September 2017)

8. Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients. (8th January 2015)

9. Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans. (27th March 2017)