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Macular telangiectasia type 2. Prog Retin Eye Res 34, 49-77 (2013).
Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families. BMC Med Genomics 13, 68 (2020).
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. Am J Hum Genet 97, 790-800 (2015).
Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population. Clin Genet 98, 499-506 (2020).
Heterozygosity mapping for human dominant trait variants. Hum Mutat 40, 996-1004 (2019).
Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes. Eur J Hum Genet (2021). doi:10.1038/s41431-021-00897-8
Comparative genomic analysis of embryonic, lineage-converted and stem cell-derived motor neurons. Development 145, (2018).
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. Acta Neuropathol Commun 4, 56 (2016).