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	1.	The coding region of TP53INP2, a gene expressed in the developing nervous system, is not altered in a family with autosomal recessive non-progressive infantile ataxia on chromosome 20q11-q13. [electronic resource] by Bennetts, Jennifer S Rendtorff, Nanna D Simpson, Fiona Tranebjaerg, Lisbeth Wicking, Carol Producer: 20070801 In: Developmental dynamics : an official publication of the American Association of Anatomists vol. 236 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	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. [electronic resource] by Rendtorff, Nanna D Bjerregaard, Bolette Frödin, Morten Kjaergaard, Susanne Hove, Hanne Skovby, Flemming Brøndum-Nielsen, Karen Schwartz, Marianne Producer: 20060619 In: Human mutation vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation. [electronic resource] by Frykholm, Carina Klar, Joakim Arnesson, Hanna Rehnman, Anna-Carin Lodahl, Marianne Wedén, Ulla Dahl, Niklas Tranebjærg, Lisbeth Rendtorff, Nanna D Producer: 20150625 In: Gene vol. 563 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations. [electronic resource] by Topsakal, Vedat Hilgert, Nele van Dinther, Joost Tranebjaerg, Lisbeth Rendtorff, Nanna D Zarowski, Andrzej Offeciers, Erwin Van Camp, Guy van de Heyning, Paul Producer: 20100830 In: Audiology & neuro-otology vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Phenotypic subregions within the split-hand/foot malformation 1 locus. [electronic resource] by Rasmussen, Malene B Kreiborg, Sven Jensen, Per Bak, Mads Mang, Yuan Lodahl, Marianne Budtz-Jørgensen, Esben Tommerup, Niels Tranebjærg, Lisbeth Rendtorff, Nanna D Producer: 20160706 In: Human genetics vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. [electronic resource] by Sanggaard, Kirsten M Kjaer, Klaus W Eiberg, Hans Nürnberg, Gudrun Nürnberg, Peter Hoffman, Katrin Jensen, Hanne Sørum, Charlotte Rendtorff, Nanna D Tranebjaerg, Lisbeth Producer: 20080429 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region. [electronic resource] by Schönewolf-Greulich, Bitten Ronan, Anne Ravn, Kristine Baekgaard, Peter Lodahl, Marianne Nielsen, Kate Rendtorff, Nanna D Tranebjaerg, Lisbeth Brøndum-Nielsen, Karen Tümer, Zeynep Producer: 20120430 In: American journal of medical genetics. Part A vol. 155A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Partial USH2A deletions contribute to Usher syndrome in Denmark. [electronic resource] by Dad, Shzeena Rendtorff, Nanna D Kann, Erik Albrechtsen, Anders Mehrjouy, Mana M Bak, Mads Tommerup, Niels Tranebjærg, Lisbeth Rosenberg, Thomas Jensen, Hanne Møller, Lisbeth B Producer: 20160824 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Partial USH2A deletions contribute to Usher syndrome in Denmark. [electronic resource] by Dad, Shzeena Rendtorff, Nanna D Kann, Erik Albrechtsen, Anders Mehrjouy, Mana M Bak, Mads Tommerup, Niels Tranebjærg, Lisbeth Rosenberg, Thomas Jensen, Hanne Møller, Lisbeth B Producer: 20160216 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome. [electronic resource] by Ha, Ainhi D Parratt, Kaitlyn L Rendtorff, Nanna D Lodahl, Marianne Ng, Karl Rowe, Dominic B Sue, Carolyn M Hayes, Michael W Tranebjaerg, Lisbeth Fung, Victor S C Producer: 20121121 In: Movement disorders : official journal of the Movement Disorder Society vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. [electronic resource] by Rendtorff, Nanna D Zhu, Mei Fagerheim, Toril Antal, Torben L Jones, MaryPat Teslovich, Tanya M Gillanders, Elizabeth M Barmada, Michael Teig, Erik Trent, Jeffrey M Friderici, Karen H Stephan, Dietrich A Tranebjaerg, Lisbeth Producer: 20061102 In: European journal of human genetics : EJHG vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. [electronic resource] by Bergman, Jorieke E H Janssen, Nicole van der Sloot, Almer M de Walle, Hermien E K Schoots, Jeroen Rendtorff, Nanna D Tranebjaerg, Lisbeth Hoefsloot, Lies H van Ravenswaaij-Arts, Conny M A Hofstra, Robert M W Producer: 20121128 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	A common [electronic resource] by Chattaraj, Parna Munjal, Tina Honda, Keiji Rendtorff, Nanna D Ratay, Jessica S Muskett, Julie A Risso, Davide S Roux, Isabelle Gertz, E Michael Schäffer, Alejandro A Friedman, Thomas B Morell, Robert J Tranebjærg, Lisbeth Griffith, Andrew J Producer: 20180504 In: Journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC. [electronic resource] by Tingaud-Sequeira, Angèle Raldúa, Demetrio Lavie, Julie Mathieu, Guilaine Bordier, Magali Knoll-Gellida, Anja Rambeau, Pierre Coupry, Isabelle André, Michèle Malm, Eva Möller, Claes Andreasson, Sten Rendtorff, Nanna D Tranebjærg, Lisbeth Koenig, Michel Lacombe, Didier Goizet, Cyril Babin, Patrick J Producer: 20180227 In: Neurobiology of disease vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Optic nerve histopathology in a case of Wolfram Syndrome: a mitochondrial pattern of axonal loss. [electronic resource] by Ross-Cisneros, Fred N Pan, Billy X Silva, Ruwan A Miller, Neil R Albini, Thomas A Tranebjaerg, Lisbeth Rendtorff, Nanna D Lodahl, Marianne Moraes-Filho, Milton N Moraes, Milton N Salomao, Solange R Berezovsky, Adriana Belfort, Rubens Carelli, Valerio Sadun, Alfredo A Producer: 20140715 In: Mitochondrion vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. [electronic resource] by 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 Producer: 20110920 In: American journal of medical genetics. Part A vol. 155A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment. [electronic resource] by Nyegaard, Mette Rendtorff, Nanna D Nielsen, Morten S Corydon, Thomas J Demontis, Ditte Starnawska, Anna Hedemand, Anne Buniello, Annalisa Niola, Francesco Overgaard, Michael T Leal, Suzanne M Ahmad, Wasim Wikman, Friedrik P Petersen, Kirsten B Crüger, Dorthe G Oostrik, Jaap Kremer, Hannie Tommerup, Niels Frödin, Morten Steel, Karen P Tranebjærg, Lisbeth Børglum, Anders D Producer: 20160503 In: PLoS genetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management. [electronic resource] by Tranebjærg, Lisbeth Strenzke, Nicola Lindholm, Sture Rendtorff, Nanna D Poulsen, Hanne Khandelia, Himanshu Kopec, Wojciech Lyngbye, Troels J Brünnich Hamel, Christian Delettre, Cecile Bocquet, Beatrice Bille, Michael Owen, Hanne H Bek, Toke Jensen, Hanne Østergaard, Karen Möller, Claes Luxon, Linda Carr, Lucinda Wilson, Louise Rajput, Kaukab Sirimanna, Tony Harrop-Griffiths, Katherine Rahman, Shamima Vona, Barbara Doll, Julia Haaf, Thomas Bartsch, Oliver Rosewich, Hendrik Moser, Tobias Bitner-Glindzicz, Maria Publication details: Human genetics 03 2018 In: Human genetics vol. 137 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management. [electronic resource] by Tranebjærg, Lisbeth Strenzke, Nicola Lindholm, Sture Rendtorff, Nanna D Poulsen, Hanne Khandelia, Himanshu Kopec, Wojciech Lyngbye, Troels J Brünnich Hamel, Christian Delettre, Cecile Bocquet, Beatrice Bille, Michael Owen, Hanne H Bek, Toke Jensen, Hanne Østergaard, Karen Möller, Claes Luxon, Linda Carr, Lucinda Wilson, Louise Rajput, Kaukab Sirimanna, Tony Harrop-Griffiths, Katherine Rahman, Shamima Vona, Barbara Doll, Julia Haaf, Thomas Bartsch, Oliver Rosewich, Hendrik Moser, Tobias Bitner-Glindzicz, Maria Producer: 20190326 In: Human genetics vol. 137 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)