Irene Kibæk Nielsen

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

Elizabeth Bhoj, Damien Haye, Annick Toutain et al. · European Journal of Medical Genetics · 2018 · 35 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency

Charlotte Kvist Lautrup, Keng Wee Teik, Ai Unzaki et al. · Molecular Genetics & Genomic Medicine · 2020 · 29 citations · Full text

Medicine, Molecular Genetics, Pathobiology +15

First reported adult patient with TARP syndrome: A case report

Allan Thomas Højland, Ihab Bishara Yousef Lolas, Henrik Okkels et al. · American Journal of Medical Genetics Part A · 2018 · 23 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Random blood glucose sampling as an early antenatal screening test for diabetes mellitus.

Irene Kibæk Nielsen, Siri Vinther, KM Birch et al. · PubMed · 1988 · 11 citations

Public Health, Maternal Health, Obstetrics +16