SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations
Rendtorff, ND, Schrijver, I, Lodahl, M, Rodriguez-Paris, J, Johnsen, T, Hansén, EC, Nickelsen, LAA, Tümer, Z, Fagerheim, T, Wetke, R, Tranebjærg, L
Published in Clinical genetics (01.10.2013)
Published in Clinical genetics (01.10.2013)
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Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment
Rendtorff, Nanna D., Lodahl, Marianne, Boulahbel, Houda, Johansen, Ida R., Pandya, Arti, Welch, Katherine O., Norris, Virginia W., Arnos, Kathleen S., Bitner-Glindzicz, Maria, Emery, Sarah B., Mets, Marilyn B., Fagerheim, Toril, Eriksson, Kristina, Hansen, Lars, Bruhn, Helene, Möller, Claes, Lindholm, Sture, Ensgaard, Stefan, Lesperance, Marci M., Tranebjaerg, Lisbeth
Published in American journal of medical genetics. Part A (01.06.2011)
Published in American journal of medical genetics. Part A (01.06.2011)
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Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations
Rendtorff, Nanna D., Bjerregaard, Bolette, Frödin, Morten, Kjaergaard, Susanne, Hove, Hanne, Skovby, Flemming, Brøndum-Nielsen, Karen, Schwartz, Marianne
Published in Human mutation (01.10.2005)
Published in Human mutation (01.10.2005)
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Identification and Characterization of an Inner Ear-Expressed Human Melanoma Inhibitory Activity (MIA)-like Gene (MIAL) with a Frequent Polymorphism That Abolishes Translation
Rendtorff, Nanna D., Frödin, Morten, Attié-Bitach, Tania, Vekemans, Michel, Tommerup, Niels
Published in Genomics (San Diego, Calif.) (01.01.2001)
Published in Genomics (San Diego, Calif.) (01.01.2001)
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