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List of works by Cornelius F Boerkoel

Beckwith–Wiedemann syndrome in sibs discordant for IC2 methylation ⬇️

scientific article published on May 21, 2012

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.

scientific article

Expression profile and mitochondrial colocalization of Tdp1 in peripheral human tissues ⬇️

scientific article published on March 28, 2013

FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?

scientific article published on 8 September 2017

Genetic defects in patients with glycogenosis type II (acid maltase deficiency) ⬇️

scientific article published on 01 January 1995

Kearns-Sayre syndrome presenting as isolated growth failure ⬇️

scientific article published on February 18, 2013

Minimal genotype–phenotype correlation for small deletions within distal 1p36 ⬇️

scientific article published on 07 November 2011

Pan-cancer RNA-seq data stratifies tumours by some hallmarks of cancer

scientific article published on 15 November 2019

Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.

scientific article published on 02 June 2016

Retroviral Mutagenesis of Cellular Oncogenes: A Review with Insights into the Mechanisms of Insertional Activation ⬇️

scientific article published on January 1, 1991

Schimke immunoosseous dysplasia complicated by moyamoya phenomenon ⬇️

scientific article published on June 30, 1998

Spinocerebellar Ataxia with Axonal Neuropathy ⬇️

scientific article published on January 1, 2010

The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice

scientific article published on 19 April 2022

The NIH Undiagnosed Diseases Program: bonding scientists and clinicians ⬇️

scientific article published on January 1, 2012

Transcriptional interaction between retroviral long terminal repeats (LTRs): mechanism of 5' LTR suppression and 3' LTR promoter activation of c-myc in avian B-cell lymphomas ⬇️

scientific article published on August 1, 1992

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