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Publications by Karin Naess
Segmental and Total Uniparental Isodisomy (UPiD) as a Disease Mechanism in Autosomal Recessive Lysosomal Disorders: Evidence From SNP Arrays
European Journal of Human Genetics
Genetics
Mutations in the Mitochondrial Tryptophanyl‐tRNA Synthetase Cause Growth Retardation and Progressive Leukoencephalopathy
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Related publications
Mosaic Segmental Uniparental Isodisomy and Progressive Clonal Selection: A Common Mechanism of Late Onset -Thalassemia Major
Haematologica
Hematology
Uniparental Isodisomy as a Cause of Recessive Mendelian Disease: A Diagnostic Pitfall With a Quick and Easy Solution in Medium/Large NGS Analyses
European Journal of Human Genetics
Genetics
Uniparental Isodisomy Caused Autosomal Recessive Diseases: NGS‐based Analysis Allows the Concurrent Detection of Homogenous Variants and Copy‐neutral Loss of Heterozygosity
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Autosomal Recessive Hyperimmunoglobulin E Syndrome: A Distinct Disease Entity
Pediatrics
Child Health
Pediatrics
Perinatology
ABCA4-associated Disease as a Model for Missing Heritability in Autosomal Recessive Disorders: Novel Noncoding Splice, Cis-Regulatory, Structural, and Recurrent Hypomorphic Variants
Genetics in Medicine
Medicine
Genetics
Large Deletions and Uniparental Disomy Detected by SNP Arrays in Adults With Thoracic Aortic Aneurysms and Dissections
American Journal of Medical Genetics, Part A
Genetics
Popliteal Pterygium Syndrome. Evidence for a Severe Autosomal Recessive Form.
Journal of Medical Genetics
Genetics
Autosomal Recessive Brachyolmia
Transplantation in Autosomal Recessive Polycystic Kidney Disease: Liver and/or Kidney?
Pediatric Nephrology
Child Health
Pediatrics
Perinatology
Nephrology
