Suchergebnisse - "Duncan, Emma L"

PubPharm (219)

81

A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD‐Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis

enthalten in: Journal of Bone and Mineral Research | 2020

von Gregson, C. | Bergen, D. | Leo, P. | +18

82

The Musculoskeletal Knowledge Portal : Making Omics Data Useful to the Broader Scientific Community

enthalten in: Journal of Bone and Mineral Research | 2020

von Kiel, D. | Kemp, J. | Rivadeneira, F. | +8

83

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome

enthalten in: Molecular Genetics & Genomic Medicine | 2020

von McInerney‐Leo, A. | West, J. | Wheeler, L. | +6

84

A rare SMAD9 mutation identifies the BMP signalling pathway as a potential osteoanabolic target

enthalten in: bioRxiv.org | 2019

von Gregson, C. | Bergen, D. | Leo, P. | +18

85

Zoledronate in the prevention of Paget's (ZiPP) : protocol for a randomised trial of genetic testing and targeted zoledronic acid therapy to prevent SQSTM1-mediated Paget's disease of bone

enthalten in: BMJ open | 2019

von Cronin, O. | Forsyth, L. | Goodman, K. | +39

86

Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene

enthalten in: The New England journal of medicine | 2019

von Brown, M. | Duncan, E. | Evans, D.

CommentOn: N Engl J Med. 2019 Mar 21;380(12):1150-1157. - PMID 30893535

87

Response to Comment on Johnson et al. Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort : Reduced Health System Costs and Improved Patient Quality of Life. Diabetes Care 2019;42:69-76

enthalten in: Diabetes care | 2019

von Johnson, S. | Carter, H. | Leo, P. | +8

CommentOn: Diabetes Care. 2019 Jan;42(1):69-76. - PMID 30523035

88

Comprehensive genetic screening : The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort

enthalten in: Pediatric diabetes | 2019

von Johnson, S. | Ellis, J. | Leo, P. | +13

89

Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort : Reduced Health System Costs and Improved Patient Quality of Life

enthalten in: Diabetes care | 2019

von Johnson, S. | Carter, H. | Leo, P. | +8

CommentIn: Diabetes Care. 2019 May;42(5):e78. - PMID 31010947

90

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing

enthalten in: Journal of the Endocrine Society | 2019

von Maharaj, A. | Buonocore, F. | Meimaridou, E. | +34