Flemming Skovby

Flemming Skovby

Professor emeritus


  1. 2018
  2. Published

    The impact of consanguinity on the frequency of inborn errors of metabolism. / Afzal, Raja Majid; Lund, Allan Meldgaard; Skovby, Flemming.

    In: Molecular Genetics and Metabolism Reports, Vol. 15, 2018, p. 6-10.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2017
  4. Published

    Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities. / Quintana, Anita M; Yu, Hung-Chun; Brebner, Alison; Pupavac, Mihaela; Geiger, Elizabeth A; Watson, Abigail; Castro, Victoria L; Cheung, Warren; Chen, Shu-Huang; Watkins, David; Pastinen, Tomi; Skovby, Flemming; Appel, Bruce; Rosenblatt, David S; Shaikh, Tamim H.

    In: Human Molecular Genetics, Vol. 26, No. 15, 08.2017, p. 2838-2849.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Diagnostisk exomsekventering til udredning af syndromer. / Østergaard, Elsebet; Risom, Lotte; Ek, Jakob; Grønborg, Sabine; Dunø, Morten; Skovby, Flemming.

    In: Ugeskrift for Læger, Vol. 179, V10160762, 2017.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    Efficacy of Rosuvastatin in Children With Homozygous Familial Hypercholesterolemia and Association With Underlying Genetic Mutations. / Stein, Evan A; Dann, Eldad J; Wiegman, Albert; Skovby, Flemming; Gaudet, Daniel; Sokal, Etienne; Charng, Min-Ji; Mohamed, Mafauzy; Luirink, Ilse; Raichlen, Joel S; Sundén, Mattias; Carlsson, Stefan C; Raal, Frederick J; Kastelein, John J P.

    In: Journal of the American College of Cardiology, Vol. 70, No. 9, 2017, p. 1162-1170.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. 2016
  8. Published

    Genetics in Pediatric Dentistry. / Kreiborg, Sven; Skovby, Flemming; Thesleff, Irma.

    Pediatric Dentistry: A Clinical Aporoach. 3. ed. Oxford : Wiley, 2016. p. 351-61.

    Research output: Chapter in Book/Report/Conference proceedingBook chapterResearchpeer-review

  9. 2015
  10. Published

    DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. / White, Janson; Mazzeu, Juliana F; Hoischen, Alexander; Jhangiani, Shalini N; Gambin, Tomasz; Alcino, Michele Calijorne; Penney, Samantha; Saraiva, Jorge M; Hove, Hanne; Skovby, Flemming; Kayserili, Hülya; Estrella, Elicia; Vulto-van Silfhout, Anneke T; Steehouwer, Marloes; Muzny, Donna M; Sutton, V Reid; Gibbs, Richard A; Lupski, James R; Brunner, Han G; van Bon, Bregje W M; Carvalho, Claudia M B; Baylor-Hopkins Center for Mendelian Genomics.

    In: American Journal of Human Genetics, Vol. 96, No. 4, 04.2015, p. 612-22.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    The Danish 22q11 research initiative. / Schmock, Henriette; Vangkilde, Anders; Larsen, Kit Melissa; Fischer, Elvira; Birknow, Michelle Rosgaard; Jepsen, Jens Richardt Møllegaard; Olesen, Charlotte; Skovby, Flemming; Plessen, Kerstin Jessica; Mørup, Morten; Hulme, Ollie; Baaré, William Frans Christiaan; Didriksen, Michael; Siebner, Hartwig Roman; Werge, Thomas; Olsen, Line.

    In: B M C Psychiatry, Vol. 15, 220, 2015, p. 1-12.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. 2014
  13. Published

    Genomet i kardiologien. / Bundgaard, Henning; Diness, Birgitte Rode; Tfelt-Hansen, Jacob; Henriksen, Finn Lund; Eschen, Ole; Skovby, Flemming; Havndrup, Ole; Jensen, Henrik Kjærulf; Tybjærg-Hansen, Anne.

    In: Ugeskrift for Laeger, Vol. 176, No. 46, V06140376, 2014.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. / Baumgartner, Matthias R; Hörster, Friederike; Dionisi-Vici, Carlo; Haliloglu, Goknur; Karall, Daniela; Chapman, Kimberly A; Huemer, Martina; Hochuli, Michel; Assoun, Murielle; Ballhausen, Diana; Burlina, Alberto; Fowler, Brian; Grünert, Sarah C; Grünewald, Stephanie; Honzik, Tomas; Merinero, Begoña; Pérez-Cerdá, Celia; Scholl-Bürgi, Sabine; Skovby, Flemming; Wijburg, Frits; MacDonald, Anita; Martinelli, Diego; Sass, Jörn Oliver; Valayannopoulos, Vassili; Chakrapani, Anupam.

    In: Orphanet Journal of Rare Diseases, Vol. 9, 2014, p. 1-36.

    Research output: Contribution to journalReviewResearchpeer-review

  15. 2013
  16. Published

    Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes. / Delio, Maria; Guo, Tingwei; McDonald-McGinn, Donna M; Zackai, Elaine; Herman, Sean; Kaminetzky, Mark; Higgins, Anne Marie; Coleman, Karlene; Chow, Carolyn; Jalbrzikowski, Maria; Jarlbrzkowski, Maria; Bearden, Carrie E; Bailey, Alice; Vangkilde, Anders; Olsen, Line; Olesen, Charlotte; Skovby, Flemming; Werge, Thomas M; Templin, Ludivine; Busa, Tiffany; Philip, Nicole; Swillen, Ann; Vermeesch, Joris R; Devriendt, Koen; Schneider, Maude; Dahoun, Sophie; Eliez, Stephan; Schoch, Kelly; Hooper, Stephen R; Shashi, Vandana; Samanich, Joy; Marion, Robert; van Amelsvoort, Therese; Boot, Erik; Klaassen, Petra; Duijff, Sasja N; Vorstman, Jacob; Yuen, Tracy; Silversides, Candice; Chow, Eva; Bassett, Anne; Frisch, Amos; Weizman, Abraham; Gothelf, Doron; Niarchou, Maria; van den Bree, Marianne; Owen, Michael J; Su�er, Damian Heine; Andreo, Jordi Rosell; Armando, Marco; Vicari, Stefano; Digilio, Maria Cristina; Auton, Adam; Kates, Wendy R; Wang, Tao; Shprintzen, Robert J; Emanuel, Beverly S; Morrow, Bernice E.

    In: American Journal of Human Genetics, Vol. 92, No. 3, 07.03.2013, p. 439-47.

    Research output: Contribution to journalJournal articleResearchpeer-review

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ID: 5895