Showing 1 - 6 results of 6 for search 'Isabelle Schrauwen', query time: 0.03s Refine Results
  1. 1
    A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes

    A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes by Nathan R. Lindquist, Eric N. Appelbaum, Anushree Acharya, Jeffrey T. Vrabec, Suzanne M. Leal, Isabelle Schrauwen

    Published 2019-01-01
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  2. 2
    A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa

    A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa by Saira Sattar, Thashi Bharadwaj, Umm-e- Kalsoom, Anushree Acharya, Saadullah Khan, Suzanne M. Leal, Isabelle Schrauwen

    Published 2025-02-01
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  3. 3
    THBS1 is a new autosomal recessive non-syndromic hearing impairment gene

    THBS1 is a new autosomal recessive non-syndromic hearing impairment gene by Thashi Bharadwaj, Anushree Acharya, Fati Ullah Khan, Saadullah Khan, Irfan Ullah, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal

    Published 2024-12-01
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  4. 4
    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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  5. 5
    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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  6. 6
    P254: Genetics of Perrault syndrome in a family with ten affected individuals

    P254: Genetics of Perrault syndrome in a family with ten affected individuals by Rabia Faridi, Thomas Smith, Leigh M. Demain, Yasuko Ishibashi, Sayaka Inagaki, Huw Thomas, Alessandro Rea, Arshia Maqbool, Isabelle Schrauwen, Khurram Liaqat, Zubair Ahmed, Sondhya Ghedia, Andrew Green, Ruth Sheffer, Hagar Mor-Shaked, Mathilda Wilding, Robin Hay, Saima Riazuddin, Langping He, Glenda Beaman, Wasim Ahmed, Suzanne Leal, Robert Taylor, Raymond O’Keefe, Robert Morell, Alejandro Schaffer, William Newman, Inna Belyantseva, Sheikh Riazuddin, Thomas Friedman

    Published 2025-01-01
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