Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review von Ejerskov, C., Raundahl, M., Gregersen, P. A., Handrup, M. M.

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New and recurrent AAGAB mutations in punctate palmoplantar keratoderma von Pohler, E., Huber, M., Boonen, S.E., Zamiri, M., Gregersen, P.A., Sommerlund, M., Ramsing, M., Hohl, D., McLean, W.H.I., Smith, F.J.D.

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A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87... von Covaciu, C., Grosso, F., Pisaneschi, E., Zambruno, G., Gregersen, P.A., Sommerlund, M., Hertz, J.M., Castiglia, D.

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Corrigendum to “Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex” [Mol. Genet. Metab. 120(4) (Apr 2017) 384–391]... von Møller, L.B., Schönewolf-Greulich, B., Rosengren, T., Larsen, L.J., Ostergaard, J.R., Sommerlund, M., Ostenfeldt, C., Stausbøl-Grøn, B., Linnet, K.M., Gregersen, P.A., Jensen, U.B.

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World Endometriosis Research Foundation Endometriosis Phenome and biobanking harmonization project: II. Clinical and covariate phenotype data collection in endometriosis research von Vitonis, Allison F., S.M, Vincent, Katy, M.B.B.S., D.Phil, Rahmioglu, Nilufer, Ph.D, Fassbender, Amelie, Ph.D, Buck Louis, Germaine M., Ph.D, Hummelshoj, Lone, Giudice, Linda C., M.D., Ph.D, Stratton, Pamela, M.D, Adamson, G. David, M.D, Becker, Christian M., M.D, Zondervan, Krina T., D.Phil, Missmer, Stacey A., Sc.D

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World Endometriosis Research Foundation Endometriosis Phenome and Biobanking Harmonisation Project: I. Surgical phenotype data collection in endometriosis research von Becker, Christian M., M.D, Laufer, Marc R., M.D, Stratton, Pamela, M.D, Hummelshoj, Lone, Missmer, Stacey A., Sc.D, Zondervan, Krina T., D.Phil, Adamson, G. David, M.D

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World Endometriosis Research Foundation Endometriosis Phenome and Biobanking Harmonization Project: III. Fluid biospecimen collection, processing, and storage in endometriosis rese... von Rahmioglu, Nilufer, Ph.D, Fassbender, Amelie, Ph.D, Vitonis, Allison F., S.M, Tworoger, Shelley S., Ph.D, Hummelshoj, Lone, D'Hooghe, Thomas M., M.D., Ph.D, Adamson, G. David, M.D, Giudice, Linda C., M.D., Ph.D, Becker, Christian M., M.D, Zondervan, Krina T., D.Phil, Missmer, Stacey A., Sc.D

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World Endometriosis Research Foundation Endometriosis Phenome and Biobanking Harmonisation Project: IV. Tissue collection, processing, and storage in endometriosis research von Fassbender, Amelie, Ph.D, Rahmioglu, Nilufer, Ph.D, Vitonis, Allison F., S.M, Viganò, Paola, Ph.D, Giudice, Linda C., M.D., Ph.D, D’Hooghe, Thomas M., M.D., Ph.D, Hummelshoj, Lone, Adamson, G. David, M.D, Becker, Christian M., M.D, Missmer, Stacey A., Sc.D, Zondervan, Krina T., D.Phil

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Procalcitonin-guided interventions against infections to increase early appropriate antibiotics and improve survival in the intensive care unit: A randomized trial von Jensen, Jens U, Hein, Lars, Lundgren, Bettina, Bestle, Morten H, Mohr, Thomas T, Andersen, Mads H, Thornberg, Klaus J, Løken, Jesper, Steensen, Morten, Fox, Zoe, Tousi, Hamid, Søe-Jensen, Peter, Lauritsen, Anne Ø, Strange, Ditte, Petersen, Pernille L, Reiter, Nanna, Hestad, Søren, Thormar, Katrin, Fjeldborg, Paul, Larsen, Kim M, Drenck, Niels E, Østergaard, Christian, Kjær, Jesper, Grarup, Jesper, Lundgren, Jens D

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Invasive Candida Infections and the Harm From Antibacterial Drugs in Critically Ill Patients: Data From a Randomized, Controlled Trial to Determine the Role of Ciprofloxacin, Piper... von Jensen, Jens-Ulrik S, Hein, Lars, Lundgren, Bettina, Bestle, Morten H, Mohr, Thomas, Andersen, Mads H, Løken, Jesper, Tousi, Hamid, Søe-Jensen, Peter, Lauritsen, Anne Ø, Strange, Ditte, Petersen, John A, Thormar, Katrin, Larsen, Kim M, Drenck, Niels-Erik, Helweg-Larsen, Jannik, Johansen, Maria E, Reinholdt, Kristian, Møller, Jens K, Olesen, Bente, Arendrup, Maiken C, Østergaard, Christian, Cozzi-Lepri, Alessandro, Grarup, Jesper, Lundgren, Jens D

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Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study von Maghnie, Mohamad, Semler, Oliver, Guillen-Navarro, Encarna, Selicorni, Angelo, Heath, Karen E, Haeusler, Gabriele, Hagenäs, Lars, Merker, Andrea, Leiva-Gea, Antonio, González, Vanesa López, Raimann, Adalbert, Rehberg, Mirko, Santos-Simarro, Fernando, Ertl, Diana-Alexandra, Gregersen, Pernille Axél, Onesimo, Roberta, Landfeldt, Erik, Jarrett, James, Quinn, Jennifer, Rowell, Richard, Pimenta, Jeanne, Cohen, Shelda, Butt, Thomas, Shediac, Renée, Mukherjee, Swati, Mohnike, Klaus

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Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect von Gregersen, Pernille Axél, Hammarsjö, Anna, Graversen, Lise, Brix, Nis, Lindelöf, Hillevi, Jensen, Uffe Birk, Farholt, Stense, Rubak, Sune, Bjerre, Jesper, Piticchio, Serena G, Terkelsen, Thorkild, Nishimura, Gen, Hellfritzsch, Michel Bach, Grigelioniene, Giedre

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Real-world evidence in achondroplasia: considerations for a standardized data set von Alanay, Yasemin, Mohnike, Klaus, Nilsson, Ola, Alves, Inês, AlSayed, Moeenaldeen, Appelman-Dijkstra, Natasha M, Baujat, Genevieve, Ben-Omran, Tawfeg, Breyer, Sandra, Cormier-Daire, Valerie, Gregersen, Pernille Axél, Guillén-Navarro, Encarna, Högler, Wolfgang, Maghnie, Mohamad, Mukherjee, Swati, Cohen, Shelda, Pimenta, Jeanne, Selicorni, Angelo, Semler, J Oliver, Sigaudy, Sabine, Popkov, Dmitry, Sabir, Ian, Noval, Susana, Sessa, Marco, Irving, Melita

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Prediction of non-recovery from ventilator-demanding acute respiratory failure, ARDS and death using lung damage biomarkers: data from a 1200-patient critical care randomized trial von Jensen, Jens-Ulrik S., Itenov, Theis S., Thormar, Katrin M., Hein, Lars, Mohr, Thomas T., Andersen, Mads H., Løken, Jesper, Tousi, Hamid, Lundgren, Bettina, Boesen, Hans Christian, Johansen, Maria E., Ostrowski, Sisse R., Johansson, Pär I., Grarup, Jesper, Vestbo, Jørgen, Lundgren, Jens D.

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Serum and Plasma Neutrophil Gelatinase Associated Lipocalin (NGAL) Levels are Not Equivalent in Patients Admitted to Intensive Care von Itenov, Theis Skovsgaard, Bangert, Kristian, Christensen, Per Hjort, Jensen, Jens-Ulrik, Bestle, Morten Heiberg

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The age-dependent decrease in the myogenic response of retinal arterioles as studied with the Retinal Vessel Analyzer von Jeppesen, Peter, Gregersen, Pernille A, Bek, Toke

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Outbreak of respiratory distress after exposure to textile proofing spray with fluorpolymer - Effective toxicovigilance through a poison center von Gregersen, P A, Klixbuell, U, Skanning, P G, Jacobsen, P

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Incidence of Retinoblastoma Has Increased: Results from 40 European Countries von Stacey, AW, Bowman, R, Foster, A, Kivelä, TT, Munier, FL, Cassoux, N, Fabian, ID, Global Retinoblastoma Study Group, Al Harby, L, Alarcón Portabella, S, Alia, DB, All-Eriksson, C, Antonino, R, Astbury, NJ, Balaguer, J, Balwierz, W, Barranco, H, Bascaran, C, Beck Popovic, M, Biewald, EM, Bobrova, N, Bornfeld, N, Brichard, BG, Blum, S, Capra, M, Castela, G, Català-Mora, J, Chantada, GL, Chernodrinska, VS, Cieslik, K, Comsa, C, Correa Llano, MG, Csóka, M, De Potter, P, Desjardins, L, Dragomir, MD, Fernández-Teijeiro, A, García Aldana, D, Gregersen, PA, Gomel, N, Hadjistilianou, T, Hederova, S, Hummlen, M, Husakova, K, Ida, R, Ilic, VR, Jenkinson, H, Kapelushnik, N, Kardava, T, Keren-Froim, N, Kepak, T, Khotenashvili, Z, Klett, A, Krivaitiene, D, Latinović, S, Lumbroso, L, Lysytsia, L, Maka, E, Martín Begue, N, Midena, E, Moll, AC, Murgoi, G, Naumenko, L, Neroev, V, Nikitovic, M, Olechowski, A, Papyan, R, Parrozzani, R, Parulekar, MV, Pawinska-Wasikowska, K, Perić, S, Pochop, P, Polyakov, VG, Reddy, MA, Ritter-Sovinz, P, Saakyan, S, Sagoo, MS, San Román Pacheco, S, Seregard, S, Silva, S, Sorochynska, T, Stathopoulos, C, Stirn Kranjc, B, Svojgr, K, Tamamyan, G, Tandili, A, Tateshi, B, Tekavcic Pompe, M, Urbak, SF, Ushakova, TL, Valeina, S, van Hoefen Wijsard, M, Veleva-Krasteva, NV, Viksnins, M, Wackernagel, W, Wolley Dod, C, Yarovaya, VA, Yarovoy, AA, Zhilyaeva, K, Zondervan, M

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Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14 von Chelban, V, Wiethoff, S, Fabian-Jessing, BK, Haridy, NA, Khan, A, Efthymiou, S, Becker, EBE, O'Connor, E, Hersheson, J, Newland, K, Hojland, AT, Gregersen, PA, Lindquist, SG, Petersen, MB, Nielsen, JE, Nielsen, M, Wood, NW, Giunti, P, Houlden, H

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New and recurrent AAGAB mutations in punctate palmoplantar keratoderma von Pohler, E, Huber, M, Boonen, S E, Zamiri, M, Gregersen, P A, Sommerlund, M, Ramsing, M, Hohl, D, McLean, W H I, Smith, F J D

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