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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
December 19, 2007
Enzyme replacement therapy for murine hypophosphatasia
José Luis Millán, Sonoko Narisawa, Isabelle Lemire, et al.
Bone
|
March 4, 2015
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients
Michael 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 disorder
Michael P Whyte, Robert S Weinstein, Paul H Phillips, et al.
Cell Reports
|
February 9, 2018
AP2σ Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity
Caroline M Gorvin, Angela Rogers, Benoit Hastoy, 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 osteopetrosis
Philippe M Campeau, James T Lu, Gautam Sule, et al.
Bone
|
January 20, 2019
Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study
Morten Frost, Michaela Tencerova, Christina M Andreasen, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 12, 2021
Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia
Agnès Linglart, Erik A Imel, Michael P Whyte, 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 RANK
Anne L Schafer, Steven Mumm, Ivan El-Sayed, et al.
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of 17
Search research articles
Search
Showing results (131-140 of 165) with videos related to
Sort By:
Page
of 17
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
December 19, 2007
Enzyme replacement therapy for murine hypophosphatasia
José Luis Millán, Sonoko Narisawa, Isabelle Lemire, et al.
Bone
|
March 4, 2015
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients
Michael 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 disorder
Michael P Whyte, Robert S Weinstein, Paul H Phillips, et al.
Cell Reports
|
February 9, 2018
AP2σ Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity
Caroline M Gorvin, Angela Rogers, Benoit Hastoy, 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 osteopetrosis
Philippe M Campeau, James T Lu, Gautam Sule, et al.
Bone
|
January 20, 2019
Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study
Morten Frost, Michaela Tencerova, Christina M Andreasen, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 12, 2021
Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia
Agnès Linglart, Erik A Imel, Michael P Whyte, 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 RANK
Anne L Schafer, Steven Mumm, Ivan El-Sayed, et al.
Page
of 17