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Pernille A Gregersen

Showing results (11-20 of 24) with videos related to

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Journal of Genetic Counseling|July 25, 2022
Danish heritable retinoblastoma survivors' perspectives on reproductive choices: "It's important for me, not to pass on this condition"Pernille A Gregersen, Mikkel Funding, Jan Alsner, et al.
European Journal of Medical Genetics|July 17, 2022
Genetic testing in adult survivors of retinoblastoma in Denmark: A study of the experience and impact of genetic testing many years after initial diagnosisPernille A Gregersen, Mikkel Funding, Jan Alsner, et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society|August 24, 2016
Aortic events in a nationwide Marfan syndrome cohortKristian A Groth, Kirstine Stochholm, Hanne Hove, et al.
European Journal of Medical Genetics|December 9, 2023
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infantKasper V Seiersen, Tine B Henriksen, Ted C K Andelius, et al.
American Journal of Medical Genetics. Part A|October 12, 2024
Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and diseaseDorte L Lildballe, Sara Markholt, Christina Daugaard Lyngholm, et al.
European Journal of Medical Genetics|September 19, 2021
B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patientAnneli C S Bolund, Bente Langdahl, Trine B Laurberg, et al.
European Journal of Medical Genetics|July 6, 2021
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1Soren L Faergeman, Anders B Bojesen, Maria Rasmussen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 1, 2018
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14Viorica Chelban, Sarah Wiethoff, Bjørn K Fabian-Jessing, et al.
Plos Genetics|December 17, 2020
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromesAnna Byrjalsen, Thomas V O Hansen, Ulrik K Stoltze, et al.
Human Mutation|October 29, 2015
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database UpdateLijia Huang, Megan R Vanstone, Taila Hartley, et al.
Pageof 3

Showing results (11-20 of 24) with videos related to

Sort By:
Pageof 3
Journal of Genetic Counseling|July 25, 2022
Danish heritable retinoblastoma survivors' perspectives on reproductive choices: "It's important for me, not to pass on this condition"Pernille A Gregersen, Mikkel Funding, Jan Alsner, et al.
European Journal of Medical Genetics|July 17, 2022
Genetic testing in adult survivors of retinoblastoma in Denmark: A study of the experience and impact of genetic testing many years after initial diagnosisPernille A Gregersen, Mikkel Funding, Jan Alsner, et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society|August 24, 2016
Aortic events in a nationwide Marfan syndrome cohortKristian A Groth, Kirstine Stochholm, Hanne Hove, et al.
European Journal of Medical Genetics|December 9, 2023
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infantKasper V Seiersen, Tine B Henriksen, Ted C K Andelius, et al.
American Journal of Medical Genetics. Part A|October 12, 2024
Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and diseaseDorte L Lildballe, Sara Markholt, Christina Daugaard Lyngholm, et al.
European Journal of Medical Genetics|September 19, 2021
B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patientAnneli C S Bolund, Bente Langdahl, Trine B Laurberg, et al.
European Journal of Medical Genetics|July 6, 2021
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1Soren L Faergeman, Anders B Bojesen, Maria Rasmussen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 1, 2018
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14Viorica Chelban, Sarah Wiethoff, Bjørn K Fabian-Jessing, et al.
Plos Genetics|December 17, 2020
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromesAnna Byrjalsen, Thomas V O Hansen, Ulrik K Stoltze, et al.
Human Mutation|October 29, 2015
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database UpdateLijia Huang, Megan R Vanstone, Taila Hartley, et al.
Pageof 3