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Publications by JN Hirschhorn
Whole Exome Sequencing in a Patient With Uniparental Disomy of Chromosome 2 and a Complex Phenotype
Clinical Genetics
Genetics
Related publications
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
Segmental Uniparental Disomy of Chromosome 4 in a Patient With Methylmalonic Acidemia
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Paternal Uniparental Disomy of Chromosome 13
Maternal Uniparental Disomy of Chromosome 20
Paternal Uniparental Disomy of Chromosome 1
Maternal Uniparental Disomy of Chromosome 16
Maternal Uniparental Disomy of Chromosome 4
Maternal Uniparental Disomy of Chromosome 22
Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q
Journal of Bone and Mineral Research
Endocrinology
Orthopedics
Sports Medicine
Metabolism
Diabetes
