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Journal of Medical Genetics|April 9, 2025
LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohortSivan Reytan Miron, Alina Kurolap, Bassam Abu-Libdeh, et al.
American Journal of Human Genetics|March 26, 2019
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial PhenotypingFelix Marbach, Cecilie F Rustad, Angelika Riess, et al.
American Journal of Human Genetics|April 10, 2012
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafishP V Asharani, Katharina Keupp, Oliver Semler, et al.
American Journal of Human Genetics|February 17, 2015
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfectaLutz Garbes, Kyungho Kim, Angelika Rieß, et al.
Clinical Genetics|September 21, 2024
Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defectsMohammad Sadegh Shams Nosrati, Alireza Doustmohammadi, Mariasavina Severino, et al.
Molecular Vision|June 17, 2008
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testingJohn Neidhardt, Esther Glaus, Birgit Lorenz, et al.
Human Molecular Genetics|October 31, 2025
Haploinsufficiency of GRHL2 is associated with orofacial clefting in humansSarah W Curtis, Cinderella Yang, Alba Sanchis-Juan, et al.
American Journal of Human Genetics|April 13, 2010
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndromeYun Li, Barbara Pawlik, Nursel Elcioglu, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial DysfunctionNadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, et al.
American Journal of Human Genetics|March 19, 2013
Mutations in WNT1 cause different forms of bone fragilityKatharina Keupp, Filippo Beleggia, Hülya Kayserili, et al.
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