Lise Graversen
Arhus, Denmark
Last Updated: 09/26/2026
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Found 19 publications
Constitutional methylation of the MLH1 promoter: a case series including tumors not typically caused by Lynch Syndrome.
Journal: European journal of human genetics : EJHG
Published: January 24, 2026
Clinical Presentation of a Family Diagnosed With Marie Unna Hereditary Hypotrichosis 1 Caused by a Novel Variant in HRURF.
Journal: Pediatric dermatology
Published: February 23, 2025
Hailey-Hailey Disease Caused by a Novel Deep Intronic Variant in ATP2C1.
Journal: American journal of medical genetics. Part A
Published: August 17, 2024
Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data.
Journal: Molecular genetics & genomic medicine
Published: June 17, 2024
Hypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR.
Journal: European journal of medical genetics
Published: May 28, 2024
Prevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark.
Journal: JAMA dermatology
Published: March 13, 2024
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.
Journal: European journal of medical genetics
Published: September 15, 2023
Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers.
Journal: Clinical epigenetics
Published: January 16, 2023
Aquagenic wrinkling of the palms is a rare dermatological disease associated with cystic fibrosis
Journal: Ugeskrift for laeger
Published: May 17, 2021
Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations.
Journal: European journal of medical genetics
Published: November 17, 2018
Last Updated: 09/26/2026