Suchergebnisse - "Duncan, Emma L"

PubPharm (219)

91

Atypical Femoral Fracture : A Fascinating Story in Evolution

enthalten in: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research | 2018

von Duncan, E.

92

Bayesian approach to determining penetrance of pathogenic SDH variants

enthalten in: Journal of medical genetics | 2018

von Benn, D. | Zhu, Y. | Andrews, K. | +21

93

HLA and KIR Associations of Cervical Neoplasia

enthalten in: The Journal of infectious diseases | 2018

von Bao, X. | Hanson, A. | Madeleine, M. | +31

94

Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY) : A novel ABCC8 mutation in a previously screened family

enthalten in: Journal of diabetes | 2018

von Johnson, S. | Leo, P. | Conwell, L. | +3

95

Genome-wide association study of extreme high bone mass : Contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes

enthalten in: Bone | 2018

von Gregson, C. | Newell, F. | Leo, P. | +17

96

A novel INS mutation in a family with maturity-onset diabetes of the young : Variable insulin secretion and putative mechanisms

enthalten in: Pediatric diabetes | 2018

von Johnson, S. | McGown, I. | Oppermann, U. | +3

97

Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

enthalten in: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research | 2018

von Cundy, T. | Dray, M. | Delahunt, J. | +15

98

Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia

enthalten in: Blood cancer journal | 2018

von Maung, K. | Leo, P. | Bassal, M. | +22

99

A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data

enthalten in: Circulation. Genomic and precision medicine | 2018

von Szot, J. | Cuny, H. | Blue, G. | +14

CommentIn: Circ Genom Precis Med. 2018 Mar;11(3):e002097. - PMID 29555674

100

Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density

enthalten in: Annals of the rheumatic diseases | 2018

von Alonso, N. | Estrada, K. | Albagha, O. | +58