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Publications by Michael Elsässer
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
Related publications
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
A Fascination With Chromosome Rescue in Uniparental Disomy: Mendelian Recessive Outlaws and Imprinting Copyrights Infringements
European Journal of Human Genetics
Genetics
Visceral Transposition as a Mendelian Recessive
BMJ
Visceral Transposition as a Mendelian Recessive
BMJ
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
Uniparental Disomy as a Cause of Pediatric Endocrine Disorders
Clinical Pediatric Endocrinology
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
American Journal of Human Genetics
Genetics
Causal Variants Screened by Whole Exome Sequencing in a Patient With Maternal Uniparental Isodisomy of Chromosome 10 and a Complicated Phenotype
Experimental and Therapeutic Medicine
Medicine
Cancer Research
Immunology
Microbiology
Maternal Uniparental Isodisomy for Chromosome 6 Discovered by Paternity Testing: A Case Report
Molecular Cytogenetics
Biochemistry
Molecular Medicine
Genetics
Molecular Biology
