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  1. Jackson, Adam; Lin, Sheng-Jia; Jones, Elizabeth A.; Chandler, Kate E.; Orr, David; Moss, Celia; Haider, Zahra; Ryan, Gavin; Holden, Simon; Harrison, Mike; Burrows, Nigel; Jones, Wendy D.; Loveless, Mary; Petree, Cassidy; Stewart, Helen; Low, Karen; Donnelly, Deirdre; Lovell, Simon; Drosou, Konstantina; Ambrose, J.C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; [...]

    Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

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    Elsevier BV, 2023

    Published in: Human Genetics and Genomics Advances, 4 (2023) 2, Seite 100186

  2. Niggl, Eva; Bouman, Arjan; Briere, Lauren C.; Hoogenboezem, Remco M.; Wallaard, Ilse; Park, Joohyun; Admard, Jakob; Wilke, Martina; Harris-Mostert, Emilio D.R.O.; Elgersma, Minetta; Bain, Jennifer; Balasubramanian, Meena; Banka, Siddharth; Benke, Paul J.; Bertrand, Miriam; Blesson, Alyssa E.; Clayton-Smith, Jill; Ellingford, Jamie M.; Gillentine, Madelyn A.; Goodloe, Dana H.; Haack, Tobias B.; Jain, Mahim; Krantz, Ian; Luu, Sharon M.; [...]

    HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

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    Elsevier BV, 2023

    Published in: The American Journal of Human Genetics, 110 (2023) 8, Seite 1414-1435