Clara Hildebrandt

6PUBLICATIONS
28CO-AUTHORS
NeurogeneticsMedical mycologyCancer geneticsNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (6)

|Apr 14, 2026
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.

Mindy H Li, Deziree L Coleman, Kelsey Hogan

|Aug 17, 2025
Cardio-Respiratory Complications in Adult Monozygotic Twins With Myhre Syndrome.

Hyoungjun Sim, Forrest Wilke, Emily Hamburger

|Aug 01, 2025
A New Case Linking a Somatic NRAS Variant to Encephalocraniocutaneous Lipomatosis.

Omar Azrak, Sheng-Che Hung, Nathaniel G Wooten

|Jul 15, 2025
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.

Clara Hildebrandt, Casie A Genetti, Tanya Logvinenko

|Mar 30, 2021
Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.

Clara C Hildebrandt, Nisha Patel, John M Graham

|Nov 10, 2020
Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy.

Clara Hildebrandt, Anne Fulton, Lance H Rodan

Pageof 1