A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia
Arnaud, Lionel, Saison, Carole, Helias, Virginie, Lucien, Nicole, Steschenko, Dominique, Giarratana, Marie-Catherine, Prehu, Claude, Foliguet, Bernard, Montout, Lory, de Brevern, Alexandre G., Francina, Alain, Ripoche, Pierre, Fenneteau, Odile, Da Costa, Lydie, Peyrard, Thierry, Coghlan, Gail, Illum, Niels, Birgens, Henrik, Tamary, Hannah, Iolascon, Achille, Delaunay, Jean, Tchernia, Gil, Cartron, Jean-Pierre
Published in American journal of human genetics (12.11.2010)
Published in American journal of human genetics (12.11.2010)
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Journal Article
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1
Faergeman, Soren L., Bojesen, Anders B., Rasmussen, Maria, Becher, Naja, Andreasen, Lotte, Andersen, Brian N., Erbs, Emilie, Lildballe, Dorte L., Nielsen, Jens Erik K., Zilmer, Monica, Hammer, Trine Bjørg, Andersen, Mikkel Ø., Brasch-Andersen, Charlotte, Fagerberg, Christina R., Illum, Niels O., Thorup, Mette B., Gregersen, Pernille A.
Published in European journal of medical genetics (01.09.2021)
Published in European journal of medical genetics (01.09.2021)
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Journal Article
Is MED13L-related intellectual disability a recognizable syndrome?
Tørring, Pernille Mathiesen, Larsen, Martin Jakob, Brasch-Andersen, Charlotte, Krogh, Lotte Nylandsted, Kibæk, Maria, Laulund, Lone, Illum, Niels, Dunkhase-Heinl, Ulrike, Wiesener, Antje, Popp, Bernt, Marangi, Giuseppe, Hjortshøj, Tina Duelund, Ek, Jakob, Vogel, Ida, Becher, Naja, Roos, Laura, Zollino, Marcella, Fagerberg, Christina Ringmann
Published in European journal of medical genetics (01.02.2019)
Published in European journal of medical genetics (01.02.2019)
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Journal Article
Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine
Lester, Emilie Boye, Larsen, Martin Jakob, Laulund, Lone Walentin, Illum, Niels, Dunkhase-Heinl, Ulrike, Schrøder, Henrik Daa, Fagerberg, Christina Ringmann
Published in European journal of medical genetics (01.03.2023)
Published in European journal of medical genetics (01.03.2023)
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Journal Article
Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions
Terkelsen, Thorkild, Brasch‐Andersen, Charlotte, Illum, Niels, Busa, Tiffany, Missirian, Chantal, Chandler, Kate, Holden, Simon T., Jensen, Uffe Birk, Fagerberg, Christina R.
Published in Clinical genetics (01.02.2022)
Published in Clinical genetics (01.02.2022)
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Journal Article
Parents’ Assessment of Disability in Their Children With Down Syndrome
Egholm, Guðrun Jákupsdóttir, Bjerknes, Margrethe, Illum, Niels Ove
Published in Child neurology open (01.01.2020)
Published in Child neurology open (01.01.2020)
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Journal Article
Burden of Disease of Duchenne Muscular Dystrophy in Denmark - A National Register-Based Study of Individuals with Duchenne Muscular Dystrophy and their Closest Relatives
Rudolfsen, Jan Håkon, Vissing, John, Werlauff, Ulla, Olesen, Charlotte, Illum, Niels, Olsen, Jens, Poulsen, Peter Bo, Strand, Mette, Born, Alfred Peter
Published in Journal of neuromuscular diseases (01.01.2024)
Published in Journal of neuromuscular diseases (01.01.2024)
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Journal Article
Environmental needs in childhood disability analysed by the WHO ICF, Child and Youth Version
Illum, Niels Ove, Bonderup, Mette, Gradel, Kim Oren
Published in Danish medical journal (01.06.2016)
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Published in Danish medical journal (01.06.2016)
Journal Article
Spinal cord injury at birth: a hidden causative factor
Fenger‐Gron, Jesper, Kock, Kirsten, Nielsen, Rasmus G, Leth, Peter M, Illum, Niels
Published in Acta Paediatrica (01.06.2008)
Published in Acta Paediatrica (01.06.2008)
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Journal Article
Neurofibroma of the larynx in a nine month-old child
Højbak, Anette Fribo Møller, Schollert, Niels Erik, Jensen, Eva Margrethe Precht, Illum, Niels, Jepsen, Søren, Godballe, Christian
Published in Ugeskrift for læger (17.10.2011)
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Published in Ugeskrift for læger (17.10.2011)
Journal Article
Oesteogenesis imperfecta--genetics, diagnosis and medical treatment
Brixen, Kim T, Illum, Niels O, Hansen, Birgitte, Lund, Allan Meldgaard, Mosekilde, Leif
Published in Ugeskrift for læger (01.01.2007)
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Published in Ugeskrift for læger (01.01.2007)
Journal Article
Symptoms and time to diagnosis in children with brain tumours
Klitbo, Ditte Marie, Nielsen, Rine, Illum, Niels Ove, Wehner, Peder Skov, Carlsen, Niels
Published in Danish medical bulletin (01.07.2011)
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Published in Danish medical bulletin (01.07.2011)
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