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American Journal of Medical Genetics
|
October 6, 1999
Mild autosomal dominant hypophosphatasia: in utero presentation in two families
C A Moore, C J Curry, P S Henthorn, et al.
Genomics
|
October 1, 1990
Linkage analysis of two cloned DNA sequences, DXS197 and DXS207, in hypophosphatemic rickets families
R V Thakker, K E Davies, A P Read, et al.
The New England Journal of Medicine
|
July 18, 1985
Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification
W S Sly, M P Whyte, V Sundaram, et al.
American Journal of Medical Genetics. Part A
|
January 19, 2006
Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy
Sarju G Mehta, Giles D J Watts, Barbara McGillivray, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 22, 2000
A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred
S Mumm, P T Christie, P Finnegan, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
November 25, 2000
Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification
M C Eddy, S M Jan De Beur, S M Yandow, et al.
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.
Bone
|
April 9, 2025
Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631)
Steven Mumm, José L Paz-Ibarra, Philippe M Campeau, et al.
Bone
|
April 5, 2011
Dose response of bone-targeted enzyme replacement for murine hypophosphatasia
Manisha C Yadav, Isabelle Lemire, Pierre Leonard, et al.
Bone
|
November 26, 2016
Osteopontin and the dento-osseous pathobiology of X-linked hypophosphatemia
Tchilalo Boukpessi, Betty Hoac, Benjamin R Coyac, et al.
Page
of 46
Search research articles
Search
Showing results (381-390 of 454) with videos related to
Sort By:
Page
of 46
American Journal of Medical Genetics
|
October 6, 1999
Mild autosomal dominant hypophosphatasia: in utero presentation in two families
C A Moore, C J Curry, P S Henthorn, et al.
Genomics
|
October 1, 1990
Linkage analysis of two cloned DNA sequences, DXS197 and DXS207, in hypophosphatemic rickets families
R V Thakker, K E Davies, A P Read, et al.
The New England Journal of Medicine
|
July 18, 1985
Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification
W S Sly, M P Whyte, V Sundaram, et al.
American Journal of Medical Genetics. Part A
|
January 19, 2006
Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy
Sarju G Mehta, Giles D J Watts, Barbara McGillivray, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 22, 2000
A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred
S Mumm, P T Christie, P Finnegan, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
November 25, 2000
Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification
M C Eddy, S M Jan De Beur, S M Yandow, et al.
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.
Bone
|
April 9, 2025
Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631)
Steven Mumm, José L Paz-Ibarra, Philippe M Campeau, et al.
Bone
|
April 5, 2011
Dose response of bone-targeted enzyme replacement for murine hypophosphatasia
Manisha C Yadav, Isabelle Lemire, Pierre Leonard, et al.
Bone
|
November 26, 2016
Osteopontin and the dento-osseous pathobiology of X-linked hypophosphatemia
Tchilalo Boukpessi, Betty Hoac, Benjamin R Coyac, et al.
Page
of 46