Jenny Blechingberg
Arhus, Denmark
Last Updated: 09/26/2026
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Found 15 publications
A deep intronic PHEX variant in a large Danish family with hereditary hypophosphatemia and a milder skeletal, but more severe dental phenotype.
Journal: Bone
Published: June 25, 2025
Polyglutamine Ataxias in Denmark: Incidence and Relative Frequencies of SCA1, 2, 3, 6, 7, 17 and DRPLA in a Nationwide Cohort.
Journal: Cerebellum (London, England)
Published: March 04, 2025
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
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
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Journal: NPJ genomic medicine
Published: August 16, 2023
CRISPR activation to characterize splice-altering variants in easily accessible cells.
Journal: American journal of human genetics
Published: July 10, 2023
A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses.
Journal: JIMD reports
Published: January 05, 2021
An alternative transcript of the Alzheimer's disease risk gene SORL1 encodes a truncated receptor.
Journal: Neurobiology of aging
Published: October 23, 2017
Last Updated: 09/26/2026