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Steven Mumm

Showing results (51-60 of 85) with videos related to

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Bone|March 23, 2020
Healing of vitamin D deficiency rickets complicating hypophosphatasia suggests a role beyond circulating mineral sufficiency for vitamin D in musculoskeletal healthElizabeth L Lin, Gary S Gottesman, William H McAlister, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 22, 2014
PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic ricketsSteven Mumm, Margaret Huskey, Adela Cajic, et al.
Nature Genetics|March 23, 2004
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing proteinGiles D J Watts, Jill Wymer, Margaret J Kovach, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|June 30, 2011
Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review)Deborah Wenkert, William H McAlister, Stephen P Coburn, et al.
Bone|April 13, 2025
Duplications within exon 1 of TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK) are associated with tendon avulsionJill H Simmons, Edna E Mancilla, Steven Mumm, et al.
Bone|June 1, 2020
Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boyMichael P Whyte, Nina S Ma, Steven Mumm, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 19, 2016
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)Michael P Whyte, William H McAlister, Michael D Fallon, et al.
JBMR Plus|August 22, 2022
Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic HeterogeneitySerap Turan, Steven Mumm, Ceren Alavanda, et al.
American Journal of Medical Genetics. Part A|January 19, 2006
Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathySarju G Mehta, Giles D J Watts, Barbara McGillivray, et al.
Bone|December 18, 2019
Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?Michael P Whyte, S Deepak Amalnath, William H McAlister, et al.
Pageof 9

Showing results (51-60 of 85) with videos related to

Sort By:
Pageof 9
Bone|March 23, 2020
Healing of vitamin D deficiency rickets complicating hypophosphatasia suggests a role beyond circulating mineral sufficiency for vitamin D in musculoskeletal healthElizabeth L Lin, Gary S Gottesman, William H McAlister, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 22, 2014
PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic ricketsSteven Mumm, Margaret Huskey, Adela Cajic, et al.
Nature Genetics|March 23, 2004
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing proteinGiles D J Watts, Jill Wymer, Margaret J Kovach, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|June 30, 2011
Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review)Deborah Wenkert, William H McAlister, Stephen P Coburn, et al.
Bone|April 13, 2025
Duplications within exon 1 of TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK) are associated with tendon avulsionJill H Simmons, Edna E Mancilla, Steven Mumm, et al.
Bone|June 1, 2020
Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boyMichael P Whyte, Nina S Ma, Steven Mumm, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 19, 2016
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)Michael P Whyte, William H McAlister, Michael D Fallon, et al.
JBMR Plus|August 22, 2022
Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic HeterogeneitySerap Turan, Steven Mumm, Ceren Alavanda, et al.
American Journal of Medical Genetics. Part A|January 19, 2006
Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathySarju G Mehta, Giles D J Watts, Barbara McGillivray, et al.
Bone|December 18, 2019
Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?Michael P Whyte, S Deepak Amalnath, William H McAlister, et al.
Pageof 9