Julia Hentschel

Leipzig, SN, Germany

Last Updated: 09/26/2026

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Found 83 publications

Telomere biology disorders associated with childhood interstitial lung disease.

Telomere biology disorders associated with childhood interstitial lung disease.

Journal: Clinical and experimental pediatrics

Published: February 15, 2026

Telomere biology disorders associated with childhood interstitial lung disease.

Telomere biology disorders associated with childhood interstitial lung disease.

Journal: Clinical and experimental pediatrics

Published: February 15, 2026

Case report: a rare BRCA1 de novo variant in a female with breast cancer.

Case report: a rare BRCA1 de novo variant in a female with breast cancer.

Journal: Hereditary cancer in clinical practice

Published: January 13, 2026

Case Report: A combination of CHEK2 and high polygenic risk score leads to early-onset male breast cancer.

Case Report: A combination of CHEK2 and high polygenic risk score leads to early-onset male breast cancer.

Journal: Frontiers in oncology

Published: December 10, 2025

Who Am I? Eyebrow Follicles Minimize Donor-Derived DNA for Germline Testing After Hematopoietic Stem Cell Transplantation.

Who Am I? Eyebrow Follicles Minimize Donor-Derived DNA for Germline Testing After Hematopoietic Stem Cell Transplantation.

Journal: International journal of molecular sciences

Published: November 20, 2025

In vitro study of TSC1 deficiency in preadipocytes: insights into development and treatment options for tuberous sclerosis related lipomatosis.

In vitro study of TSC1 deficiency in preadipocytes: insights into development and treatment options for tuberous sclerosis related lipomatosis.

Journal: Orphanet journal of rare diseases

Published: October 28, 2025

PRS-BC313 integration for tailored breast cancer prevention in female patients and their healthy relatives.

PRS-BC313 integration for tailored breast cancer prevention in female patients and their healthy relatives.

Journal: Journal of medical genetics

Published: September 15, 2025

Combined ketone body and glutamine supplementation restores aerobic energy production in AGC1-deficient neuronal progenitors.

Combined ketone body and glutamine supplementation restores aerobic energy production in AGC1-deficient neuronal progenitors.

Journal: Cell death & disease

Published: September 08, 2025

Case Report: Pitfalls in CF screening - targeted variant analysis can cause misleading results and therapy recommendations.

Case Report: Pitfalls in CF screening - targeted variant analysis can cause misleading results and therapy recommendations.

Journal: Frontiers in genetics

Published: August 27, 2025

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: June 24, 2025

Discontinuation of supportive therapies in people with cystic fibrosis treated with elexacaftor/tezacaftor/ivacaftor - A patient-reported outcomes' study.

Discontinuation of supportive therapies in people with cystic fibrosis treated with elexacaftor/tezacaftor/ivacaftor - A patient-reported outcomes' study.

Journal: Respiratory medicine

Published: May 23, 2025

SyMetrics: an integrated machine learning model for evaluating the pathogenicity of synonymous variants in the human genome.

SyMetrics: an integrated machine learning model for evaluating the pathogenicity of synonymous variants in the human genome.

Journal: NAR genomics and bioinformatics

Published: April 26, 2025

Showing 1-12 of 83

Last Updated: 09/26/2026