Pernille Axél Gregersen

Aarhus University Hospital

Denmark

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Articles (20)

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2025

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2022

Collaborators (16)

Mette Møller Handrup

Aarhus University Hospital

DENMARK

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Signe Beck-Nielsen

Aarhus University

DENMARK

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Kasper Jacobsen Kyng

Aarhus University

DENMARK

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Stina Lou

Aarhus University

DENMARK

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Adalbert Raimann

Medical University of Vienna

AUSTRIA

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Sune Rubak

Aarhus University

DENMARK

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Tania Attié‐Bitach

FRANCE

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Jan Alsner

Aarhus University

DENMARK

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Myla Ashfaq

Associate Professor

The University of Texas Health Science Center at Houston

UNITED STATES

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Brian Nauheimer Andersen

Aarhus University

DENMARK

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Birgitte Rode Diness

DENMARK

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Anne Skakkebæk

Aarhus University

DENMARK

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Eline van der Sluijs

Leiden University Medical Center

NETHERLANDS

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Jesper Padkær Petersen

Aarhus University

DENMARK

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Catherine Quinlan

University of Melbourne

AUSTRALIA

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Encarna Guillén-Navarro

Profesora titular vinculada

Universidad de Murcia

SPAIN

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Pernille Axél Gregersen

Research Interests

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Articles (20)

Variable expressivity of a transmitted pathogenic KAT6B variant

A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines.

Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect

Retinoblastoma with and without Extraocular Tumor Extension

Phenotypic variability in a family with an inherited KAT6A frameshift variant

Psychosocial Interventions to Improve Wellbeing in Teenage and Young Adult Post-Treatment Survivors of Childhood Cancer

Frontometaphyseal dysplasia associated with the FLNA p.G1576R variant

A de novo FBN1 missense variant associated with a severe phenotype of early onset Marfan syndrome

Hypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR

Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and disease

Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.

Danish heritable retinoblastoma survivors' perspectives on reproductive choices

Pycnodysostosis in children and adults

Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2

Real-world evidence in achondroplasia

Genetic testing in adult survivors of retinoblastoma in Denmark

Succesful MEK-inhibition of severe hypertrophic cardiomyopathy in RIT1-related Noonan Syndrome

Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Sex, gender, and retinoblastoma

Collaborators (16)

Mette Møller Handrup

Signe Beck-Nielsen

Kasper Jacobsen Kyng

Stina Lou

Adalbert Raimann

Sune Rubak

Tania Attié‐Bitach

Jan Alsner

Myla Ashfaq

Brian Nauheimer Andersen

Birgitte Rode Diness

Anne Skakkebæk

Eline van der Sluijs

Jesper Padkær Petersen

Catherine Quinlan

Encarna Guillén-Navarro

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