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

Sort By:
Pageof 3
European Journal of Human Genetics : EJHG|March 3, 2026
Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-upPerrine Brunelle, Anne-Sophie Jourdain, Fabienne Escande, et al.
European Journal of Medical Genetics|September 1, 2022
TRIT1 deficiency: Two novel patients with four novel variantsThomas Smol, Perrine Brunelle, Roseline Caumes, et al.
Human Genomics|February 12, 2026
Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical managementHammad Yousaf, Sajid Ali, Ahad Yousuf Moulvi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2024
RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefrontClémence Vanlerberghe, Frédéric Frénois, Thomas Smol, et al.
Journal of Medical Genetics|January 24, 2018
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfectaMathilde Doyard, Séverine Bacrot, Céline Huber, et al.
European Journal of Human Genetics : EJHG|March 21, 2025
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approachesSilvestre Cuinat, Nicolas Chatron, Florence Petit, et al.
Human Mutation|September 11, 2019
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformationsAnne-Sophie Jourdain, Florence Petit, Marie-Françoise Odou, et al.
Human Mutation|April 1, 2020
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8ASimon Boussion, Fabienne Escande, Anne-Sophie Jourdain, et al.
Orphanet Journal of Rare Diseases|October 17, 2015
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutationsSandra Mercier, Sébastien Küry, Emmanuelle Salort-Campana, et al.
Science Advances|August 17, 2022
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disordersXiangbin Jia, Shujie Zhang, Senwei Tan, et al.
Pageof 3