Suchergebnisse - "Duncan, Emma L"

PubPharm (219)

71

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

enthalten in: Human molecular genetics | 2020

von Martin, E. | Enriquez, A. | Sparrow, D. | +31

72

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

enthalten in: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research | 2020

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

CommentIn: J Bone Miner Res. 2020 Sep;35(9):1623-1625. - PMID 32845524

73

Characteristics of Early Paget's Disease in SQSTM1 Mutation Carriers : Baseline Analysis of the ZiPP Study Cohort

enthalten in: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research | 2020

von Cronin, O. | Subedi, D. | Forsyth, L. | +36

74

Use of the arm-span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians : Diagnostically challenging

enthalten in: American journal of medical genetics. Part A | 2020

von McInerney-Leo, A. | West, J. | McGill, J. | +3

75

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

76

Massively Parallel Sequencing for Rare Genetic Disorders : Potential and Pitfalls

enthalten in: Frontiers in endocrinology | 2020

von McInerney-Leo, A. | Duncan, E.

77

The Genetic Architecture of High Bone Mass

enthalten in: Frontiers in endocrinology | 2020

von Gregson, C. | Duncan, E.

78

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 : the official journal of the American Society for Bone and Mineral Research | 2020

von Gregson, C. | Bergen, D. | Leo, P. | +19

79

Opportunities and Challenges in Functional Genomics Research in Osteoporosis : Report From a Workshop Held by the Causes Working Group of the Osteoporosis and Bone Research Academy of the Royal Osteoporosis Society on October 5th 2020

enthalten in: Frontiers in endocrinology | 2020

von Tobias, J. | Duncan, E. | Kague, E. | +17

80

Use of the arm‐span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians : Diagnostically challenging

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2020

von McInerney‐Leo, A. | West, J. | McGill, J. | +3