Lilian B. Ousager
Odense, Denmark
Last Updated: 09/26/2026
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Found 66 publications
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
Somatic mutational landscape in von Hippel-Lindau familial hemangioblastoma.
Journal: Molecular oncology
Published: September 24, 2025
International Clinical Evidence-based Guideline for Kleefstra Syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 14, 2025
International clinical evidence-based guideline for Kleefstra syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 14, 2025
Trends in pulmonary function in patients with Birt-Hogg-Dubé syndrome: a retrospective cohort study.
Trends in pulmonary function in patients with Birt-Hogg-Dubé syndrome: a retrospective cohort study.
Journal: European clinical respiratory journal
Published: January 17, 2025
Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.
Journal: JAMA dermatology
Published: December 04, 2024
Plantar keratoderma and curly hair as a diagnostic clue of cardiomyopathy risk.
Journal: The Journal of dermatology
Published: January 05, 2024
Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing.
Journal: The New England journal of medicine
Published: November 22, 2023
Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark.
Journal: Clinical genetics
Published: November 09, 2023
Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency - characterization of a new genetic variant.
Journal: Endocrinology, diabetes & metabolism case reports
Published: August 09, 2023
Risk of Cancer and Mortality in Peutz-Jeghers Syndrome and Juvenile Polyposis Syndrome-A Nationwide Cohort Study With Matched Controls.
Journal: Gastroenterology
Published: July 10, 2023
Last Updated: 09/26/2026