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Items: 4

Select item 64605801.

Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies

Max Krall, Stephanie Htun, Rhonda E. Schnur, Alice S. Brooks, Laura Baker, Alejandra de Alba Campomanes, Ryan E. Lamont, Karen W. Gripp, Care 4 Rare Canada Consortium, Dina Schneidman-Duhovny, A. Micheil Innes, Grazia M. S. Mancini, Anne M. Slavotinek

Eur J Hum Genet. 2019 Apr; 27(4): 582–593. Published online 2019 Jan 8. doi: 10.1038/s41431-018-0298-9

PMCID:: PMC6460580

Abstract Article PDF–1.3M

Select item 46341372.

RFX transcription factors are essential for hearing in mice

Ran Elkon, Beatrice Milon, Laura Morrison, Manan Shah, Sarath Vijayakumar, Manoj Racherla, Carmen C. Leitch, Lorna Silipino, Shadan Hadi, Michèle Weiss-Gayet, Emmanuèle Barras, Christoph D. Schmid, Aouatef Ait-Lounis, Ashley Barnes, Yang Song, David J. Eisenman, Efrat Eliyahu, Gregory I. Frolenkov, Scott E. Strome, Bénédicte Durand, Norann A. Zaghloul, Sherri M. Jones, Walter Reith, Ronna Hertzano

Nat Commun. 2015; 6: 8549. Published online 2015 Oct 15. doi: 10.1038/ncomms9549