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Bone|July 16, 2008
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic ricketsShoji Ichikawa, Elizabeth A Traxler, Selina A Estwick, et al.
The Journal of Clinical Endocrinology and Metabolism|August 25, 2005
Polymorphisms in the estrogen receptor beta (ESR2) gene are associated with bone mineral density in Caucasian men and womenShoji Ichikawa, Daniel L Koller, Munro Peacock, et al.
The Journal of Clinical Endocrinology and Metabolism|February 22, 2007
Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrationsShoji Ichikawa, Vincent Guigonis, Erik A Imel, et al.
Calcified Tissue International|December 19, 2008
Association of adenylate cyclase 10 (ADCY10) polymorphisms and bone mineral density in healthy adultsShoji Ichikawa, Daniel L Koller, Leah R Curry, et al.
Bone|April 22, 2014
SIBLING family genes and bone mineral density: association and allele-specific expression in humansImranul Alam, Leah R Padgett, Shoji Ichikawa, et al.
The Journal of Clinical Investigation|August 22, 2007
A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosisShoji Ichikawa, Erik A Imel, Mary L Kreiter, et al.
Genetics in Medicine Open|March 9, 2026
RNA-guided clarity: The potential for resolving variant uncertainty in clinical exome sequencingGrace E VanNoy, Catherine Schultz, Brooklynn Gasser, et al.
Bioinformatics (Oxford, England)|May 22, 2012
regSNPs: a strategy for prioritizing regulatory single nucleotide substitutionsMingxiang Teng, Shoji Ichikawa, Leah R Padgett, et al.
Bone|November 5, 2013
Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease modelsImranul Alam, Amie K Gray, Kang Chu, et al.
The Journal of Clinical Investigation|September 19, 2018
Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodiesMary Scott Roberts, Peter D Burbelo, Daniela Egli-Spichtig, et al.
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