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American Journal of Medical Genetics. Part A
|
July 4, 2014
Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis
Steven Mumm, Margaret Huskey, Shenghui Duan, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
April 2, 2009
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia
Michael P Whyte, Deborah Wenkert, William H McAlister, et al.
American Journal of Medical Genetics. Part A
|
October 14, 2005
Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?
Carrie L Heike, Michael L Cunningham, Robert D Steiner, 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.
Molecular Genetics and Metabolism
|
February 7, 2021
Utility of genetic testing for prenatal presentations of hypophosphatasia
Brian Sperelakis-Beedham, Agnès Taillandier, Christelle Domingues, et al.
Bone
|
December 28, 2020
Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V
Michael 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 mutation
Steven Mumm, Gary S Gottesman, Deborah Wenkert, et al.
The New England Journal of Medicine
|
March 9, 2012
Enzyme-replacement therapy in life-threatening hypophosphatasia
Michael P Whyte, Cheryl R Greenberg, Nada J Salman, et al.
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Search research articles
Search
Showing results (31-40 of 38) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 38 results.
American Journal of Medical Genetics. Part A
|
July 4, 2014
Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis
Steven Mumm, Margaret Huskey, Shenghui Duan, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
April 2, 2009
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia
Michael P Whyte, Deborah Wenkert, William H McAlister, et al.
American Journal of Medical Genetics. Part A
|
October 14, 2005
Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?
Carrie L Heike, Michael L Cunningham, Robert D Steiner, 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.
Molecular Genetics and Metabolism
|
February 7, 2021
Utility of genetic testing for prenatal presentations of hypophosphatasia
Brian Sperelakis-Beedham, Agnès Taillandier, Christelle Domingues, et al.
Bone
|
December 28, 2020
Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V
Michael 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 mutation
Steven Mumm, Gary S Gottesman, Deborah Wenkert, et al.
The New England Journal of Medicine
|
March 9, 2012
Enzyme-replacement therapy in life-threatening hypophosphatasia
Michael P Whyte, Cheryl R Greenberg, Nada J Salman, et al.
Page
of 4