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Steven Mumm

Showing results (71-80 of 85) with videos related to

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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 14, 2012
Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancyJesse E Otero, Gary S Gottesman, William H McAlister, et al.
Bone|March 4, 2015
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patientsMichael P Whyte, Fan Zhang, Deborah Wenkert, et al.
Bone|July 31, 2024
Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorderMichael P Whyte, Robert S Weinstein, Paul H Phillips, et al.
Bone|April 17, 2020
Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7)Michael P Whyte, Philippe M Campeau, William H McAlister, et al.
Human Molecular Genetics|August 10, 2012
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosisPhilippe M Campeau, James T Lu, Gautam Sule, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 20, 2008
WITHDRAWN: Familial Degenerative Encephalopathy with Intracranial Calcification and Metaphyseal DysplasiaMargaret M Timmons, James Garbern, Pamela G Robey, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 17, 2015
Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65)Anja L Frederiksen, Martin J Larsen, Klaus Brusgaard, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 10, 2013
Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANKAnne L Schafer, Steven Mumm, Ivan El-Sayed, et al.
Bone|December 28, 2020
Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type VMichael P Whyte, James Aronson, William H McAlister, et al.
Bone|September 1, 2019
Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutationSteven Mumm, Gary S Gottesman, Deborah Wenkert, et al.
Pageof 9

Showing results (71-80 of 85) with videos related to

Sort By:
Pageof 9
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 14, 2012
Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancyJesse E Otero, Gary S Gottesman, William H McAlister, et al.
Bone|March 4, 2015
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patientsMichael P Whyte, Fan Zhang, Deborah Wenkert, et al.
Bone|July 31, 2024
Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorderMichael P Whyte, Robert S Weinstein, Paul H Phillips, et al.
Bone|April 17, 2020
Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7)Michael P Whyte, Philippe M Campeau, William H McAlister, et al.
Human Molecular Genetics|August 10, 2012
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosisPhilippe M Campeau, James T Lu, Gautam Sule, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 20, 2008
WITHDRAWN: Familial Degenerative Encephalopathy with Intracranial Calcification and Metaphyseal DysplasiaMargaret M Timmons, James Garbern, Pamela G Robey, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 17, 2015
Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65)Anja L Frederiksen, Martin J Larsen, Klaus Brusgaard, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 10, 2013
Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANKAnne L Schafer, Steven Mumm, Ivan El-Sayed, et al.
Bone|December 28, 2020
Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type VMichael P Whyte, James Aronson, William H McAlister, et al.
Bone|September 1, 2019
Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutationSteven Mumm, Gary S Gottesman, Deborah Wenkert, et al.
Pageof 9