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Orphanet Journal of Rare Diseases|November 25, 2025
The Global Hypophosphatasia Registry: lessons learned from a decade of real-world dataPriya S Kishnani, Lothar Seefried, Keiichi Ozono, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 3, 2025
Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variantsRodrigo Montero-Lopez, Mariam R Farman, Florian Högler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2019
Mobility in osteogenesis imperfecta: a multicenter North American studyKaren M Kruger, Angela Caudill, Mercedes Rodriguez Celin, et al.
Bone|October 28, 2023
The Global ALPL gene variant classification project: Dedicated to deciphering variantsMariam R Farman, Catherine Rehder, Theodora Malli, et al.
Clinical Genetics|August 29, 2018
A multicenter study to evaluate pulmonary function in osteogenesis imperfectaAllison Tam, Shan Chen, Evan Schauer, et al.
JBMR Plus|May 19, 2025
The ALPL gene variant project: results of the first 100 reclassified variantsMariam R Farman, Theodora Malli, Catherine Rehder, et al.
EMBO Molecular Medicine|November 17, 2020
Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signalingMichaela Bosakova, Sara P Abraham, Alexandru Nita, et al.
Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA|November 20, 2023
The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature SurveillanceMaria Luisa Brandi, Aliya A Khan, Eric T Rush, et al.
American Journal of Medical Genetics. Part A|February 8, 2020
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotypeIlana Chilton, Volkan Okur, Giuseppina Vitiello, et al.
Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA|November 20, 2023
Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adultsAliya A Khan, Maria Luisa Brandi, Eric T Rush, et al.
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