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BMJ Case Reports
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January 12, 2021
Identification of a pathogenic <i>CARD14</i> mutation in a 70-year-old woman with pityriasis rubra pilaris: when genetic diagnosis influences choice of treatment strategy
Rikke Maria Nielsen, Stine Bjørn Gram, Anette Bygum
Ugeskrift for Laeger
|
March 10, 2023
Stine Bjørn Gram, Klaus Brusgaard, Lilian Bomme Ousager, et al.
The Journal of Dermatology
|
March 25, 2024
Plantar keratoderma and curly hair as a diagnostic clue of cardiomyopathy risk
Stine Bjørn Gram, Klaus Brusgaard, Anette Bygum, et al.
Clinical Genetics
|
February 5, 2024
Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark
Stine Bjørn Gram, Anne Sofie Fredberg Jørgensen, Anette Bygum, et al.
JAMA Dermatology
|
December 4, 2024
Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma
Stine Bjørn Gram, Klaus Brusgaard, Ulrikke Lei, et al.
Endocrinology, Diabetes & Metabolism Case Reports
|
August 1, 2024
Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency - characterization of a new genetic variant
Cagla Margit Øzdemir, Mette Mølby Nielsen, Jani Liimatta, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 6) with videos related to
Sort By:
Page
of 1
BMJ Case Reports
|
January 12, 2021
Identification of a pathogenic <i>CARD14</i> mutation in a 70-year-old woman with pityriasis rubra pilaris: when genetic diagnosis influences choice of treatment strategy
Rikke Maria Nielsen, Stine Bjørn Gram, Anette Bygum
Ugeskrift for Laeger
|
March 10, 2023
Stine Bjørn Gram, Klaus Brusgaard, Lilian Bomme Ousager, et al.
The Journal of Dermatology
|
March 25, 2024
Plantar keratoderma and curly hair as a diagnostic clue of cardiomyopathy risk
Stine Bjørn Gram, Klaus Brusgaard, Anette Bygum, et al.
Clinical Genetics
|
February 5, 2024
Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark
Stine Bjørn Gram, Anne Sofie Fredberg Jørgensen, Anette Bygum, et al.
JAMA Dermatology
|
December 4, 2024
Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma
Stine Bjørn Gram, Klaus Brusgaard, Ulrikke Lei, et al.
Endocrinology, Diabetes & Metabolism Case Reports
|
August 1, 2024
Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency - characterization of a new genetic variant
Cagla Margit Øzdemir, Mette Mølby Nielsen, Jani Liimatta, et al.
Page
of 1