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1. A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. Issue 9 (28th May 2014)

2. An atypical deletion of the Williams–Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism. Issue 2 (13th September 2006)

3. Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III). (27th February 2015)

4. ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories. Issue 1 (December 2015)

6. Cover. Issue 2 (7th February 2020)

7. Detection of mosaic variants using genome sequencing in a large pediatric cohort. Issue 3 (23rd December 2022)

8. Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi‐Ethnic Allele and Copy Number Variant Detection. Issue 1 (5th August 2020)

9. Development and clinical application of an integrative genomic approach to personalized cancer therapy. Issue 1 (December 2016)