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Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

Journal article

Wei W. et al, (2020), Nature Communications, 11

Multiple endocrine neoplasia type 1 (MEN1) 5' UTR deletion, in MEN1 family, decreases menin expression.

Journal article

Kooblall KG. et al, (2020), Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.

Journal article

Stevenson M. et al, (2020), American journal of medical genetics. Part A

A statistical approach for tracking clonal dynamics in cancer using longitudinal next-generation sequencing data.

Journal article

Vavoulis DV. et al, (2020), Bioinformatics (Oxford, England)

Whole-genome sequencing of patients with rare diseases in a national health system

Journal article

Turro E. et al, (2020), Nature, 583, 96 - 102

Whole-genome sequencing of patients with rare diseases in a national health system.

Journal article

Turro E. et al, (2020), Nature, 583, 96 - 102

MichelaNglo: sculpting protein views on web pages without coding.

Journal article

Ferla MP. et al, (2020), Bioinformatics (Oxford, England), 36, 3268 - 3270

Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation

Journal article

Bolton C. et al, (2020), Journal of Crohn's and Colitis, 14, 142 - 147

Sequencing of human genomes with nanopore technology

Journal article

Bowden R. et al, (2019), Nature Communications, 10

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma

Journal article

Winter H. et al, (2019), Cancers, 11, 1895 - 1895

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

Journal article

Pagnamenta AT. et al, (2019), Clin Genet, 95, 693 - 703

Germline selection shapes human mitochondrial DNA diversity

Journal article

Wei W. et al, (2019), Science, 364, eaau6520 - eaau6520

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