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    Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda

    Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda by Esther Uwibambe, Abdoulaye Yalcouyé, Elvis Twumasi Aboagye, Lettilia Xhakaza, Kalinka Popel, Norbert Dukuze, Thashi Bharadwaj, Carmen de Kock, Isabelle Schrauwen, Suzanne M. Leal, Leon Mutesa, Ambroise Wonkam

    Published 2025-05-01
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  2. 2
    Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali

    Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali by Abdoulaye Yalcouyé, Isabelle Schrauwen, Oumou Traoré, Salia Bamba, Elvis Twumasi Aboagye, Anushree Acharya, Thashi Bharadwaj, Rachel Latanich, Kevin Esoh, Cesar A. Fortes-Lima, Carmen de Kock, Mario Jonas, Alassane dit Baneye Maiga, Cheick A.K. Cissé, Moussa A. Sangaré, Cheick O. Guinto, Guida Landouré, Suzanne M. Leal, Ambroise Wonkam

    Published 2025-01-01
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