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Displaying 3 results.
    • Journal article
    Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
    Devane, John Ott, Elisabeth Olinger, Eric[UCL] Epting, Daniel Decker, Eva Friedrich, Anja Bachmann, Nadine Renschler, Gina Eisenberger, Tobias Briem-Richter, Andrea Grabhorn, Enke Freya Powell, Laura Wilson, Ian J Rice, Sarah J Miles, Colin G Wood, Katrina Genomics England Research Consortium Trivedi, Palak Hirschfield, Gideon Pietrobattista, Andrea Wohler, Elizabeth Mezina, Anya Sobreira, Nara Agolini, Emanuele Maggiore, Giuseppe Dahmer-Heath, Mareike Yilmaz, Ali Boerries, Melanie Metzger, Patrick Schell, Christoph Grünewald, Inga Konrad, Martin König, Jens Schlevogt, Bernhard Sayer, John A Bergmann, Carsten (2022) American journal of human genetics — Vol. 109, no.5, p. 928-943 (2022)
    • Journal article
    Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data.
    Orr, Sarah Olinger, Eric[UCL] Iosifidou, Sotia Barroso-Gil, Miguel Neatu, Ruxandra Wood, Katrina Wilson, Ian Genomics England Research Consortium Sayer, John Andrew (2024) Annals of human genetics — Vol. 88, no.1, p. 76-85 (2024)
    • Journal article
    Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease.
    Olinger, Eric[UCL] Phakdeekitcharoen, Pran Caliskan, Yasar Orr, Sarah Mabillard, Holly Pickles, Charles Tse, Yincent Wood, Katrina Genomics England Research Consortium Sayer, John A (2022) American journal of medical genetics. Part C, Seminars in medical genetics — Vol. 190, no.1, p. 109-120 (2022)