Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
BMJ Open|November 17, 2025
At the epicentre: a qualitative study of how parents of a child with de novo retinoblastoma experience the diagnostic process and primary treatmentStina Lou, Kathrine Carstensen, Pernille Aakjær Mikkelsen, et al.
American Journal of Medical Genetics. Part A|August 8, 2026
Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood CancersOle Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, et al.
Clinical Genetics|June 14, 2022
Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical proceduresSofus Sølyst, Riina Oksjoki, Stense Farholt, et al.
Molecular Genetics and Metabolism|March 25, 2017
Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complexLisbeth Birk Møller, Bitten Schönewolf-Greulich, Thomas Rosengren, et al.
Clinical Genetics|September 6, 2024
Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defectPernille Axél Gregersen, Anna Hammarsjö, Lise Graversen, et al.
European Journal of Medical Genetics|April 14, 2019
Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentationsLise Graversen, Mette Møller Handrup, Melita Irving, et al.
European Journal of Medical Genetics|April 4, 2024
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variantsLaura Krogh Herlin, Morten Krogh Herlin, Jenny Blechingberg, et al.
Orphanet Journal of Rare Diseases|June 26, 2023
Real-world evidence in achondroplasia: considerations for a standardized data setYasemin Alanay, Klaus Mohnike, Ola Nilsson, et al.
European Journal of Medical Genetics|November 15, 2023
National clinical Genetic Networks - GENets - Establishment of expert collaborations in DenmarkDorte L Lildballe, Anja Lisbeth Frederiksen, Bitten Schönewolf-Greulich, et al.
Orphanet Journal of Rare Diseases|March 16, 2023
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational studyMohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, et al.
Pageof 3