Showing results (11-20 of 42) with videos related to

Sort By:
Pageof 5
Clinical Genetics|May 27, 2024
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphologyLine Aagaard Nolting, Tess Holling, Gen Nishimura, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|July 26, 2024
The role of pathogenic TCF12 variants in children with coronal craniosynostosis-a systematic review with addition of two novel casesJon Foss-Skiftesvik, Carl Christian Larsen, Ulrik Kristoffer Stoltze, et al.
Human Mutation|August 23, 2005
Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutationsNanna D Rendtorff, Bolette Bjerregaard, Morten Frödin, et al.
European Journal of Medical Genetics|May 29, 2007
Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?Anne-Marie Bisgaard, Maria Kirchhoff, Jens Erik Nielsen, et al.
European Journal of Medical Genetics|August 14, 2022
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowthBitten Schönewolf-Greulich, Helena Gásdal Karstensen, Tina D Hjortshøj, 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.
Journal of the Neurological Sciences|May 29, 2020
Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)Birgitte Rode Diness, Rachel Nina Palmquist, Rikke Norling, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 25, 2020
Bone Geometry, Density, and Microarchitecture in the Distal Radius and Tibia in Adults With Marfan Syndrome Assessed by HR-pQCTLars Folkestad, Kristian A Groth, Vikram Shanbhogue, et al.
Orphanet Journal of Rare Diseases|December 4, 2015
Prevalence, incidence, and age at diagnosis in Marfan SyndromeKristian A Groth, Hanne Hove, Kasper Kyhl, et al.
European Journal of Human Genetics : EJHG|July 20, 2022
School performance of children with neurofibromatosis 1: a nationwide population-based studyKaroline Doser, Federica Belmonte, Klaus Kaae Andersen, et al.
Pageof 5