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European Journal of Human Genetics : EJHG|November 6, 2024
Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasiaSwati Singh, Sumita Danda, Neetu Sharma, et al.Indian Journal of Pediatrics|January 24, 2023
Exome Sequencing in Monogenic Forms of RicketsPrince Jacob, Gandham SriLakshmi Bhavani, Prajna Udupa, et al.Indian Journal of Orthopaedics|May 11, 2022
The Natural History of Non-operatively Managed Legg-Calvé-Perthes' DiseaseRamez Ailabouni, Bryn O Zomar, Bronwyn L Slobogean, et al.Journal of Pediatric Orthopedics|March 10, 2025
Anterior Hip Clearance in Residual Legg-Calvé-Perthes DiseaseLuke G Johnson, Honglin Zhang, Benjamin Joseph, et al.Human Mutation|March 10, 2022
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasiaTess Holling, Gandham S Bhavani, Leonie von Elsner, et al.Clinical Genetics|February 20, 2024
Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasiasNaseebullah Kakar, Fazal Ur Rehman, Ramandeep Kaur, et al.BMC Public Health|September 25, 2015
Beyond crystal balls: crosscutting solutions in global health to prepare for an unpredictable futureWladimir Jimenez Alonso, Benjamin Joseph James McCormick, Mark A Miller, et al.American Journal of Medical Genetics. Part A|November 26, 2015
Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathyGandham SriLakshmi Bhavani, Hitesh Shah, Anju Shukla, et al.Human Mutation|September 23, 2022
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3Pelin Ozlem Simsek-Kiper, Prince Jacob, Priyanka Upadhyai, et al.Osteoarthritis and Cartilage Open|March 31, 2025
Early age-related changes to articular cartilage T1ρ in hips with Legg-Calvé-Perthes disease deformityLuke G Johnson, Carly E Jones, Daniel G Rosenbaum, et al.Pageof 19