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Julia Hentschel

Ärztin

Name	Julia Hentschel
Ort	Leipzig (Wirkungsort) Deutschland
Akademischer Grad bzw. Titel	Dr. rer. nat.
Beruf	Ärztin (charakteristischer Beruf)
Beziehung	Universität Leipzig
Weitere Angaben	Mitarbeiterin am Institut für Humangenetik, Universität Leipzig
Datensatztyp	Person
GND-Nummer	1158628811
Datensatz-ID	1158628811
Beteiligt an alle anzeigen Aktualisierte Handlungsempfehlung nach der Leitlinie „Diagnose der Mukoviszidose“ Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis Clinical Impact of Polygenic Risk Score for Breast Cancer Risk Prediction in 382 Individuals with Hereditary Breast and Ovarian Cancer Syndrome Divergent dynamics of inflammatory mediators and multiplex PCRs during airway infection in cystic fibrosis patients and healthy controls : Serial upper airway sampling by nasal lavage altAFplotter: a web app for reliable UPD detection in NGS diagnostics Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings Ivacaftor Reduces Inflammatory Mediators in Upper Airway Lining Fluid From Cystic Fibrosis Patients With a G551D Mutation: Serial Non- Invasive Home-Based Collection of Upper Airway Lining Fluid Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier Prevalence of cancer predisposition germline variants in male breast cancer patients: results of the German Consortium for Hereditary Breast and Ovarian Cancer Uncovering the contribution of moderate-penetrance susceptibility genes to breast cancer by whole-exome sequencing and targeted enrichment sequencing of candidate genes in women of European ancestry Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers Audit of sweat chloride testing reveals analytical errors In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer Cystic-fibrosis related-diabetes (CFRD) is preceded by and associated with growth failure and deteriorating lung function Einführung des deutschlandweiten Neugeborenenscreenings für Mukoviszidose

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Katalog der Deutschen Nationalbibliothek

Julia Hentschel

Aktualisierte Handlungsempfehlung nach der Leitlinie „Diagnose der Mukoviszidose“

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

Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis

Clinical Impact of Polygenic Risk Score for Breast Cancer Risk Prediction in 382 Individuals with Hereditary Breast and Ovarian Cancer Syndrome

Divergent dynamics of inflammatory mediators and multiplex PCRs during airway infection in cystic fibrosis patients and healthy controls : Serial upper airway sampling by nasal lavage

altAFplotter: a web app for reliable UPD detection in NGS diagnostics

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

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

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

Ivacaftor Reduces Inflammatory Mediators in Upper Airway Lining Fluid From Cystic Fibrosis Patients With a G551D Mutation: Serial Non- Invasive Home-Based Collection of Upper Airway Lining Fluid

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

Prevalence of cancer predisposition germline variants in male breast cancer patients: results of the German Consortium for Hereditary Breast and Ovarian Cancer

Uncovering the contribution of moderate-penetrance susceptibility genes to breast cancer by whole-exome sequencing and targeted enrichment sequencing of candidate genes in women of European ancestry

Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion

Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers

Audit of sweat chloride testing reveals analytical errors

In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas

Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

Cystic-fibrosis related-diabetes (CFRD) is preceded by and associated with growth failure and deteriorating lung function

Einführung des deutschlandweiten Neugeborenenscreenings für Mukoviszidose