Surfactant protein D is a candidate biomarker for subclinical tobacco smoke-induced lung damage von Johansson, Sofie L, Tan, Qihua, Holst, René, Christiansen, Lene, Hansen, Niels C G, Hojland, Allan T, Wulf-Johansson, Helle, Schlosser, Anders, Titlestad, Ingrid L, Vestbo, Jørgen, Holmskov, Uffe, Kyvik, Kirsten O, Sorensen, Grith L

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Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: A case report and review of the literature von Herlin, Morten, Højland, Allan T., Petersen, Michael B.

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Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) s... von Herlin, Morten K, Le, Vang Q, Højland, Allan T, Ernst, Anja, Okkels, Henrik, Petersen, Astrid C, Petersen, Michael B, Pedersen, Inge S

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First reported adult patient with TARP syndrome: A case report von Højland, Allan T., Lolas, Ihab, Okkels, Henrik, Lautrup, Charlotte K., Diness, Birgitte R., Petersen, Michael B., Nielsen, Irene K.

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The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys von Ernst, Anja, Le, Vang Q., Højland, Allan T., Pedersen, Inge S., Sørensen, Tine H., Bjerregaard, Lise L., Lyngbye, Troels J.B., Gammelager, Ninna M., Krarup, Henrik, Petersen, Michael B.

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Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14 von Chelban, Viorica, Wiethoff, Sarah, Fabian‐Jessing, Bjørn K., Haridy, Nourelhoda A., Khan, Alaa, Efthymiou, Stephanie, Becker, Esther B. E., O'Connor, Emer, Hersheson, Joshua, Newland, Katrina, Hojland, Allan Thomas, Gregersen, Pernille A., Lindquist, Suzanne G., Petersen, Michael B., Nielsen, Jørgen E., Nielsen, Michael, Wood, Nicholas W., Giunti, Paola, Houlden, Henry

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A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis von Højland, Allan Thomas, Tavernier, Lisse J. M., Schrauwen, Isabelle, Sommen, Manou, Topsakal, Vedat, Schatteman, Isabelle, Dhooge, Ingeborg, Huber, Alex, Zanetti, Diego, Kunst, Henricus P. M., Hoischen, Alexander, Petersen, Michael B., Van Camp, Guy, Fransen, Erik

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First reported CABP2‐related non‐syndromic hearing loss in Northern Europe von Sheyanth, Inger Norlyk, Højland, Allan Thomas, Okkels, Henrik, Lolas, Ihab, Thorup, Christian, Petersen, Michael Bjørn

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Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome von Karstensen, Helena Gásdal, Rendtorff, Nanna Dahl, Hindbæk, Lone Sandbjerg, Colombo, Roberto, Stein, Amelie, Birkebæk, Niels Holtum, Hartmann-Petersen, Rasmus, Lindorff-Larsen, Kresten, Højland, Allan Thomas, Petersen, Michael Bjørn, Tranebjærg, Lisbeth

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Audiological and Vestibular Findings in Subjects with MELAS Syndrome von Hougaard, Dan Dupont, Hestoy, Danjal Hofgaard, Hojland, Allan Thomas, Gaihede, Michael, Petersen, Michael Bjorn

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