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Steven Mumm

Showing results (21-30 of 85) with videos related to

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JBMR Plus|April 17, 2023
LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low-Density Lipoprotein Receptor-Related Protein 6Michael P Whyte, Steven Mumm, Jonathan C Baker, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 4, 2014
Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1Michael P Whyte, Amanda Blythe, William H McAlister, et al.
Bone|January 11, 2020
Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANKSean J Iwamoto, Micol S Rothman, Shenghui Duan, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|March 14, 2007
Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levelsMichael P Whyte, Panagiotis N Singhellakis, Michael B Petersen, et al.
American Journal of Medical Genetics|September 5, 2002
Genes and translocations involved in POFDavid Schlessinger, Luisa Herrera, Laura Crisponi, et al.
The Journal of Clinical Endocrinology and Metabolism|February 8, 2007
Sporadic hyperphosphatasia syndrome featuring periostitis and accelerated skeletal turnover without receptor activator of nuclear factor-kappaB, osteoprotegerin, or sequestosome-1 gene defectsSuat Simsek, Natalja M Basoski, Nathalie Bravenboer, et al.
Bone|May 23, 2025
Markedly discordant hypophosphatasia in a young girlVikram Prakash, Samer Elbabaa, Richard Banks, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 15, 2013
Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sistersNúria Guañabens, Steven Mumm, Ingrid Möller, et al.
American Journal of Medical Genetics. Part A|January 15, 2016
Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget diseaseGary S Gottesman, Katherine L Madson, William H McAlister, et al.
Archives of Dermatology|January 20, 2010
Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected familyMichelle Yadegari, Michael P Whyte, Steven Mumm, et al.
Pageof 9

Showing results (21-30 of 85) with videos related to

Sort By:
Pageof 9
JBMR Plus|April 17, 2023
LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low-Density Lipoprotein Receptor-Related Protein 6Michael P Whyte, Steven Mumm, Jonathan C Baker, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 4, 2014
Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1Michael P Whyte, Amanda Blythe, William H McAlister, et al.
Bone|January 11, 2020
Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANKSean J Iwamoto, Micol S Rothman, Shenghui Duan, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|March 14, 2007
Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levelsMichael P Whyte, Panagiotis N Singhellakis, Michael B Petersen, et al.
American Journal of Medical Genetics|September 5, 2002
Genes and translocations involved in POFDavid Schlessinger, Luisa Herrera, Laura Crisponi, et al.
The Journal of Clinical Endocrinology and Metabolism|February 8, 2007
Sporadic hyperphosphatasia syndrome featuring periostitis and accelerated skeletal turnover without receptor activator of nuclear factor-kappaB, osteoprotegerin, or sequestosome-1 gene defectsSuat Simsek, Natalja M Basoski, Nathalie Bravenboer, et al.
Bone|May 23, 2025
Markedly discordant hypophosphatasia in a young girlVikram Prakash, Samer Elbabaa, Richard Banks, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 15, 2013
Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sistersNúria Guañabens, Steven Mumm, Ingrid Möller, et al.
American Journal of Medical Genetics. Part A|January 15, 2016
Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget diseaseGary S Gottesman, Katherine L Madson, William H McAlister, et al.
Archives of Dermatology|January 20, 2010
Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected familyMichelle Yadegari, Michael P Whyte, Steven Mumm, et al.
Pageof 9