Showing results (1-10 of 29) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|March 9, 2024
Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non-Finnish European, Finnish, and Ashkenazi Jewish populationsMiska Kandolin, Minna Pöyhönen, Eveliina Jakkula
American Journal of Human Genetics|June 3, 2008
Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzleJonna Tallila, Eveliina Jakkula, Leena Peltonen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2024
Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestriesRonja Hotakainen, Timo Järvinen, Kaisa Kettunen, et al.
Clinical Case Reports|October 17, 2022
Multi-exon COL5A1 deletion in a child with classical Ehlers-Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicismSonja Strang-Karlsson, Sylvia Keigwin, Anna-Kaisa Anttonen, et al.
Genome Medicine|May 26, 2009
Worldwide patterns of haplotype diversity at 9p21.3, a locus associated with type 2 diabetes and coronary heart diseaseKaisa Silander, Hua Tang, Sean Myles, et al.
JID Innovations : Skin Science From Molecules to Population Health|August 3, 2023
Relevance of Coding Variation in FLG And DOCK8 in Finnish Pediatric Patients with Early-Onset Moderate-To-Severe Atopic DermatitisMiia Perälä, Meri Kaustio, Alexander Salava, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|February 29, 2024
Comprehensive Inherited Risk Estimation for Risk-Based Breast Cancer Screening in WomenNina Mars, Sini Kerminen, Max Tamlander, et al.
American Journal of Medical Genetics. Part A|May 7, 2019
SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancyAnna H Hakonen, Anne Polvi, Carola Saloranta, et al.
Plos One|August 30, 2018
Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritisSini Skarp, Olli-Pekka Kämäräinen, Gong-Hong Wei, et al.
American Journal of Medical Genetics. Part A|September 9, 2020
Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndromeAnna H Hakonen, Johanna Lehtonen, Sirpa Kivirikko, et al.
Pageof 3