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Mayo Clinic Proceedings
|
February 5, 2013
Increasing incidence of nutritional rickets: a population-based study in Olmsted County, Minnesota
Tom D Thacher, Philip R Fischer, Peter J Tebben, et al.
American Journal of Medical Genetics. Part A
|
August 21, 2020
Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD
Karthik Muthusamy, Erica L Macke, Eric W Klee, et al.
Journal of Evaluation in Clinical Practice
|
November 1, 2018
Improved utilization of waist-to-height ratio in cardiometabolic risk counselling in children: Application of DMAIC strategy
Nidhi Gupta, Aida Lteif, Ana Creo, et al.
The Journal of Clinical Endocrinology and Metabolism
|
February 17, 2012
Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy
Peter J Tebben, Dawn S Milliner, Ronald L Horst, et al.
Pflugers Archiv : European Journal of Physiology
|
September 10, 2005
Secreted frizzled-related protein-4 reduces sodium-phosphate co-transporter abundance and activity in proximal tubule cells
Theresa J Berndt, Bernhard Bielesz, Theodore A Craig, et al.
Bone
|
February 18, 2019
Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score
Tom D Thacher, John M Pettifor, Peter J Tebben, et al.
Surgery
|
October 27, 2023
Primary hyperparathyroidism in patients with multiple endocrine neoplasia type 1: Impact of genotype and surgical approach on long-term postoperative outcomes
Omair A Shariq, Vitor B Abrantes, Lauren Y Lu, et al.
American Journal of Medical Genetics. Part A
|
October 24, 2020
Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance
Karthik Muthusamy, Christian Hanna, Derek R Johnson, et al.
American Journal of Medical Genetics. Part A
|
April 2, 2010
Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome
Salman Kirmani, Peter J Tebben, Aida N Lteif, et al.
Kidney International Reports
|
July 26, 2021
High Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency
Christian Hanna, Theodora A Potretzke, Andrea G Cogal, et al.
Page
of 4
Search research articles
Search
Showing results (21-30 of 33) with videos related to
Sort By:
Page
of 4
Mayo Clinic Proceedings
|
February 5, 2013
Increasing incidence of nutritional rickets: a population-based study in Olmsted County, Minnesota
Tom D Thacher, Philip R Fischer, Peter J Tebben, et al.
American Journal of Medical Genetics. Part A
|
August 21, 2020
Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD
Karthik Muthusamy, Erica L Macke, Eric W Klee, et al.
Journal of Evaluation in Clinical Practice
|
November 1, 2018
Improved utilization of waist-to-height ratio in cardiometabolic risk counselling in children: Application of DMAIC strategy
Nidhi Gupta, Aida Lteif, Ana Creo, et al.
The Journal of Clinical Endocrinology and Metabolism
|
February 17, 2012
Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy
Peter J Tebben, Dawn S Milliner, Ronald L Horst, et al.
Pflugers Archiv : European Journal of Physiology
|
September 10, 2005
Secreted frizzled-related protein-4 reduces sodium-phosphate co-transporter abundance and activity in proximal tubule cells
Theresa J Berndt, Bernhard Bielesz, Theodore A Craig, et al.
Bone
|
February 18, 2019
Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score
Tom D Thacher, John M Pettifor, Peter J Tebben, et al.
Surgery
|
October 27, 2023
Primary hyperparathyroidism in patients with multiple endocrine neoplasia type 1: Impact of genotype and surgical approach on long-term postoperative outcomes
Omair A Shariq, Vitor B Abrantes, Lauren Y Lu, et al.
American Journal of Medical Genetics. Part A
|
October 24, 2020
Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance
Karthik Muthusamy, Christian Hanna, Derek R Johnson, et al.
American Journal of Medical Genetics. Part A
|
April 2, 2010
Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome
Salman Kirmani, Peter J Tebben, Aida N Lteif, et al.
Kidney International Reports
|
July 26, 2021
High Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency
Christian Hanna, Theodora A Potretzke, Andrea G Cogal, et al.
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of 4