Pauline Wilhelmina Bogaard

  • Reberbansgade, Aalborg Universitetshospital, Nord

    9000 Aalborg

    Denmark

  • Denmark

20132019
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  • 14 Similar Profiles
Exome Medicine & Life Sciences
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Mitochondrial Diseases Medicine & Life Sciences
Pedigree Medicine & Life Sciences
Muscle Hypotonia Medicine & Life Sciences
Brain Diseases Medicine & Life Sciences
Muscular Diseases Medicine & Life Sciences
Acidosis Medicine & Life Sciences

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Research Output 2013 2019

  • 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

Mitochondrial Diseases
Muscle Hypotonia
Brain Diseases
Acidosis
Early Diagnosis
2 Citations (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

Pedigree
Retrognathia
Didelphis
Organizations
Blepharoptosis

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