Line Aagaard Nolting

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 4

Top Topics

Intellectual Disability

Escherichia Coli

Top Venues

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Line Aagaard Nolting, Tess Holling, Gen Nishimura, Jakob Ek, Mads Bak, Merete Ljungberg, Kerstin Kutsche, Hanne Hove
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology. Clinical genetics 106 (3) (2024)
Line Aagaard Nolting, Tess Holling, Gen Nishimura, Jakob Ek, Mads Bak, Merete Ljungberg, Kerstin Kutsche, Hanne Hove
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology. Clinical genetics 106 (3) (2024)
Line Aagaard Nolting, Tess Holling, Gen Nishimura, Jakob Ek, Mads Bak, Merete Ljungberg, Kerstin Kutsche, Hanne Hove
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology. Clinical genetics (2024)
Line Aagaard Nolting, Charlotte Brasch-Andersen, Helen Cox, Farah Kanani, Michael Parker, Andrew E Fry, Sara Loddo, Antonio Novelli, Maria Lisa Dentici, Shelagh Joss, Joan P Jørgensen, Christina R Fagerberg
A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis. Clinical genetics 97 (6) (2020)