20132019

Research output per year

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Research Output

  • 6 Journal article
  • 1 Poster
  • 1 Conference abstract in journal

Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene

Brix, N., Jensen, J. M., Pedersen, I. S., Ernst, A., Frost, S., Bogaard, P., Petersen, M. B. & Bender, L., Oct 2019, In : Neonatology. 116, 3, p. 290–294 5 p.

Research output: Contribution to journalJournal articleResearchpeer-review

  • 1 Citation (Scopus)

    Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

    Bhoj, E. J., Haye, D., Toutain, A., Bonneau, D., Nielsen, I. K., Lund, I. B., Bogaard, P., Leenskjold, S., Karaer, K., Wild, K. T., Grand, K. L., Astiazaran, M. C., Gonzalez-Nieto, L. A., Carvalho, A., Lehalle, D., Amudhavalli, S. M., Repnikova, E., Saunders, C., Thiffault, I., Saadi, I. & 7 others, Li, D., Hakonarson, H., Vial, Y., Zackai, E., Callier, P., Drunat, S. & Verloes, A., Dec 2019, In : European Journal of Medical Genetics. 62, 12, 103588.

    Research output: Contribution to journalJournal articleResearchpeer-review

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  • 4 Citations (Scopus)
    2 Downloads (Pure)

    Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

    Verloes, A., Haye, D., Toutain, A., Bonneau, D., Nielsen, I. K., Lund, I. B., Bogaard, P., Leenskjold, S., Karaer, K., Wild, K. T., Grand, K. L., Astiazaran, M. C., Gonzalez-Nieto, L. A., Carvalho, A., Lehalle, D., Amudhavalli, S. M., Repnikova, E., Saunders, C., Thiffault, I., Thiffault, I. & 8 others, Saadi, I., Li, D., Hakonarson, H., Vial, Y., Zackai, E., Callier, P., Drunat, S. & Bhoj, E. E., Oct 2019, In : European Journal of Human Genetics. 27, Suppl. 2, p. 1517-1518 2 p.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

    Placental mosaicism in the era of chromosomal microarrays

    Vogel, I., Vestergaard, E. M., Lildballe, D. L., Christensen, R., Hoseth, G-E., Petersen, A. C., Bogaard, P. & Sørensen, A. N., 2019, In : European Journal of Medical Genetics. 103778.

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Postpartum placental CT angiography in normal pregnancies and in those complicated by diabetes mellitus

    Thunbo, M. Ø., Sinding, M., Bogaard, P. W., Korsager, A. S., Frøkjær, J. B., Østergaard, L. R., Petersen, A. C. & Sørensen, A., 2018. 1 p.

    Research output: Contribution to conference without publisher/journalPosterResearchpeer-review